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cps1 genetic analysis  (ClinGen Resource)

 
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    ClinGen Resource cps1 genetic analysis
    Sanger sequencing of patients with <t>CPS1</t> variants. A. P1 has three heterozygous variants of c.1927 A > G (p.Asn643Asp), c.2375 T > G (p.Met792Arg) and c.3443 T > A (p.Met1148Lys). B. P2 has two heterozygous variants of c.3784C > T (p.Arg1262Ter), c.3734 T > A (p.Leu1245His). The red arrows refer corresponding variants.
    Cps1 Genetic Analysis, supplied by ClinGen Resource, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/result/cps1 genetic analysis/product/ClinGen Resource
    Average 90 stars, based on 1 article reviews
    cps1 genetic analysis - by Bioz Stars, 2026-02
    90/100 stars

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    1) Product Images from "Identification of novel variants in carbamoyl phosphate synthetase 1 gene and comparative pathogenicity assessments of CPS1 missense variants following ACMG/AMP-ClinGen recommendation for computational tools"

    Article Title: Identification of novel variants in carbamoyl phosphate synthetase 1 gene and comparative pathogenicity assessments of CPS1 missense variants following ACMG/AMP-ClinGen recommendation for computational tools

    Journal: Molecular Genetics and Metabolism Reports

    doi: 10.1016/j.ymgmr.2025.101208

    Sanger sequencing of patients with CPS1 variants. A. P1 has three heterozygous variants of c.1927 A > G (p.Asn643Asp), c.2375 T > G (p.Met792Arg) and c.3443 T > A (p.Met1148Lys). B. P2 has two heterozygous variants of c.3784C > T (p.Arg1262Ter), c.3734 T > A (p.Leu1245His). The red arrows refer corresponding variants.
    Figure Legend Snippet: Sanger sequencing of patients with CPS1 variants. A. P1 has three heterozygous variants of c.1927 A > G (p.Asn643Asp), c.2375 T > G (p.Met792Arg) and c.3443 T > A (p.Met1148Lys). B. P2 has two heterozygous variants of c.3784C > T (p.Arg1262Ter), c.3734 T > A (p.Leu1245His). The red arrows refer corresponding variants.

    Techniques Used: Sequencing

    Free energy changes of CPS1 missense variants.
    Figure Legend Snippet: Free energy changes of CPS1 missense variants.

    Techniques Used:

    Flexibility changes of CPS1 missense variants.
    Figure Legend Snippet: Flexibility changes of CPS1 missense variants.

    Techniques Used:

    Genotypic features and in silico investigations of CPS1 missense variants and Comparative evaluation of pathogenicity interpretation of CPS1 variants before and after PP3/BP4 criteria updating.
    Figure Legend Snippet: Genotypic features and in silico investigations of CPS1 missense variants and Comparative evaluation of pathogenicity interpretation of CPS1 variants before and after PP3/BP4 criteria updating.

    Techniques Used: In Silico, Variant Assay

    Pathogenicity interpretation of CPS1 variants.
    Figure Legend Snippet: Pathogenicity interpretation of CPS1 variants.

    Techniques Used: Variant Assay

    Distribution and flow changes of CPS1 pathogenicity classification in ClinVar. A. Left: 95.12 % (312 variants) are classified as VUS, 4.57 % (15 variants) are classified as LP and 0.3 % (1 variant) are classified as B in ClinVar Database before PP3 criterion application; Right: 89.63 % (294 variants) are classified as VUS, 9.45 % (31 variants) are classified as LP and 0.61 % (2 variants) are classified as P and 0.3 % (1 variant) are classified as B in ClinVar Database after PP3 criterion application. B. Reported variants group; Left: 67.57 % (25 variants) are classified as VUS and 32.43 % (12 variants) are classified as LP before PP3 criterion application; Right: 18.92 % (7 variants) are classified as VUS, 75.68 % (28 variants) are classified as LP and 5.41 % (2 variants) are classified as P after PP3 criterion application. C. Unreported variants group; Left: 98.63 % (287 variants) are classified as VUS, 1.03 % (3 variants) are classified as LP and 0.34 % (1 variants) are classified as B before PP3 criterion application; Right: 98.63 % (287 variants) are classified as VUS, 1.03 % (3 variants) are classified as LP and 0.34 % (1 variants) are classified as B after PP3 criterion application.
    Figure Legend Snippet: Distribution and flow changes of CPS1 pathogenicity classification in ClinVar. A. Left: 95.12 % (312 variants) are classified as VUS, 4.57 % (15 variants) are classified as LP and 0.3 % (1 variant) are classified as B in ClinVar Database before PP3 criterion application; Right: 89.63 % (294 variants) are classified as VUS, 9.45 % (31 variants) are classified as LP and 0.61 % (2 variants) are classified as P and 0.3 % (1 variant) are classified as B in ClinVar Database after PP3 criterion application. B. Reported variants group; Left: 67.57 % (25 variants) are classified as VUS and 32.43 % (12 variants) are classified as LP before PP3 criterion application; Right: 18.92 % (7 variants) are classified as VUS, 75.68 % (28 variants) are classified as LP and 5.41 % (2 variants) are classified as P after PP3 criterion application. C. Unreported variants group; Left: 98.63 % (287 variants) are classified as VUS, 1.03 % (3 variants) are classified as LP and 0.34 % (1 variants) are classified as B before PP3 criterion application; Right: 98.63 % (287 variants) are classified as VUS, 1.03 % (3 variants) are classified as LP and 0.34 % (1 variants) are classified as B after PP3 criterion application.

    Techniques Used: Variant Assay



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    cps1 genetic analysis  (ClinGen Resource)
    90
    ClinGen Resource cps1 genetic analysis
    Sanger sequencing of patients with <t>CPS1</t> variants. A. P1 has three heterozygous variants of c.1927 A > G (p.Asn643Asp), c.2375 T > G (p.Met792Arg) and c.3443 T > A (p.Met1148Lys). B. P2 has two heterozygous variants of c.3784C > T (p.Arg1262Ter), c.3734 T > A (p.Leu1245His). The red arrows refer corresponding variants.
    Cps1 Genetic Analysis, supplied by ClinGen Resource, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/result/cps1 genetic analysis/product/ClinGen Resource
    Average 90 stars, based on 1 article reviews
    cps1 genetic analysis - by Bioz Stars, 2026-02
    90/100 stars
    		  Buy from Supplier

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    Sanger sequencing of patients with CPS1 variants. A. P1 has three heterozygous variants of c.1927 A > G (p.Asn643Asp), c.2375 T > G (p.Met792Arg) and c.3443 T > A (p.Met1148Lys). B. P2 has two heterozygous variants of c.3784C > T (p.Arg1262Ter), c.3734 T > A (p.Leu1245His). The red arrows refer corresponding variants.

    Journal: Molecular Genetics and Metabolism Reports

    Article Title: Identification of novel variants in carbamoyl phosphate synthetase 1 gene and comparative pathogenicity assessments of CPS1 missense variants following ACMG/AMP-ClinGen recommendation for computational tools

    doi: 10.1016/j.ymgmr.2025.101208

    Figure Lengend Snippet: Sanger sequencing of patients with CPS1 variants. A. P1 has three heterozygous variants of c.1927 A > G (p.Asn643Asp), c.2375 T > G (p.Met792Arg) and c.3443 T > A (p.Met1148Lys). B. P2 has two heterozygous variants of c.3784C > T (p.Arg1262Ter), c.3734 T > A (p.Leu1245His). The red arrows refer corresponding variants.

    Article Snippet: In this study, we presented the detailed laboratory features and genetic analysis of two patients with heterozygous variants of CPS1, c.1927 A > G (p.Asn643Asp), c.2375 T > G (p.Met792Arg), c.3443 T > A (p.Met1148Lys) in patient 1; c.3784C > T (p.Arg1262Ter), c.3734 T > A (p.Leu1245His) in patient 2, respectively. c.1927 A > G (p.Asn643Asp) and c.2375 T > G (p.Met792Arg) are novel out of 5 variants and classified as variants of uncertain significance (VUS) under the guidelines of ACMG/AMP-ClinGen.

    Techniques: Sequencing

    Free energy changes of CPS1 missense variants.

    Journal: Molecular Genetics and Metabolism Reports

    Article Title: Identification of novel variants in carbamoyl phosphate synthetase 1 gene and comparative pathogenicity assessments of CPS1 missense variants following ACMG/AMP-ClinGen recommendation for computational tools

    doi: 10.1016/j.ymgmr.2025.101208

    Figure Lengend Snippet: Free energy changes of CPS1 missense variants.

    Article Snippet: In this study, we presented the detailed laboratory features and genetic analysis of two patients with heterozygous variants of CPS1, c.1927 A > G (p.Asn643Asp), c.2375 T > G (p.Met792Arg), c.3443 T > A (p.Met1148Lys) in patient 1; c.3784C > T (p.Arg1262Ter), c.3734 T > A (p.Leu1245His) in patient 2, respectively. c.1927 A > G (p.Asn643Asp) and c.2375 T > G (p.Met792Arg) are novel out of 5 variants and classified as variants of uncertain significance (VUS) under the guidelines of ACMG/AMP-ClinGen.

    Techniques:

    Flexibility changes of CPS1 missense variants.

    Journal: Molecular Genetics and Metabolism Reports

    Article Title: Identification of novel variants in carbamoyl phosphate synthetase 1 gene and comparative pathogenicity assessments of CPS1 missense variants following ACMG/AMP-ClinGen recommendation for computational tools

    doi: 10.1016/j.ymgmr.2025.101208

    Figure Lengend Snippet: Flexibility changes of CPS1 missense variants.

    Article Snippet: In this study, we presented the detailed laboratory features and genetic analysis of two patients with heterozygous variants of CPS1, c.1927 A > G (p.Asn643Asp), c.2375 T > G (p.Met792Arg), c.3443 T > A (p.Met1148Lys) in patient 1; c.3784C > T (p.Arg1262Ter), c.3734 T > A (p.Leu1245His) in patient 2, respectively. c.1927 A > G (p.Asn643Asp) and c.2375 T > G (p.Met792Arg) are novel out of 5 variants and classified as variants of uncertain significance (VUS) under the guidelines of ACMG/AMP-ClinGen.

    Techniques:

    Genotypic features and in silico investigations of CPS1 missense variants and Comparative evaluation of pathogenicity interpretation of CPS1 variants before and after PP3/BP4 criteria updating.

    Journal: Molecular Genetics and Metabolism Reports

    Article Title: Identification of novel variants in carbamoyl phosphate synthetase 1 gene and comparative pathogenicity assessments of CPS1 missense variants following ACMG/AMP-ClinGen recommendation for computational tools

    doi: 10.1016/j.ymgmr.2025.101208

    Figure Lengend Snippet: Genotypic features and in silico investigations of CPS1 missense variants and Comparative evaluation of pathogenicity interpretation of CPS1 variants before and after PP3/BP4 criteria updating.

    Article Snippet: In this study, we presented the detailed laboratory features and genetic analysis of two patients with heterozygous variants of CPS1, c.1927 A > G (p.Asn643Asp), c.2375 T > G (p.Met792Arg), c.3443 T > A (p.Met1148Lys) in patient 1; c.3784C > T (p.Arg1262Ter), c.3734 T > A (p.Leu1245His) in patient 2, respectively. c.1927 A > G (p.Asn643Asp) and c.2375 T > G (p.Met792Arg) are novel out of 5 variants and classified as variants of uncertain significance (VUS) under the guidelines of ACMG/AMP-ClinGen.

    Techniques: In Silico, Variant Assay

    Pathogenicity interpretation of CPS1 variants.

    Journal: Molecular Genetics and Metabolism Reports

    Article Title: Identification of novel variants in carbamoyl phosphate synthetase 1 gene and comparative pathogenicity assessments of CPS1 missense variants following ACMG/AMP-ClinGen recommendation for computational tools

    doi: 10.1016/j.ymgmr.2025.101208

    Figure Lengend Snippet: Pathogenicity interpretation of CPS1 variants.

    Article Snippet: In this study, we presented the detailed laboratory features and genetic analysis of two patients with heterozygous variants of CPS1, c.1927 A > G (p.Asn643Asp), c.2375 T > G (p.Met792Arg), c.3443 T > A (p.Met1148Lys) in patient 1; c.3784C > T (p.Arg1262Ter), c.3734 T > A (p.Leu1245His) in patient 2, respectively. c.1927 A > G (p.Asn643Asp) and c.2375 T > G (p.Met792Arg) are novel out of 5 variants and classified as variants of uncertain significance (VUS) under the guidelines of ACMG/AMP-ClinGen.

    Techniques: Variant Assay

    Distribution and flow changes of CPS1 pathogenicity classification in ClinVar. A. Left: 95.12 % (312 variants) are classified as VUS, 4.57 % (15 variants) are classified as LP and 0.3 % (1 variant) are classified as B in ClinVar Database before PP3 criterion application; Right: 89.63 % (294 variants) are classified as VUS, 9.45 % (31 variants) are classified as LP and 0.61 % (2 variants) are classified as P and 0.3 % (1 variant) are classified as B in ClinVar Database after PP3 criterion application. B. Reported variants group; Left: 67.57 % (25 variants) are classified as VUS and 32.43 % (12 variants) are classified as LP before PP3 criterion application; Right: 18.92 % (7 variants) are classified as VUS, 75.68 % (28 variants) are classified as LP and 5.41 % (2 variants) are classified as P after PP3 criterion application. C. Unreported variants group; Left: 98.63 % (287 variants) are classified as VUS, 1.03 % (3 variants) are classified as LP and 0.34 % (1 variants) are classified as B before PP3 criterion application; Right: 98.63 % (287 variants) are classified as VUS, 1.03 % (3 variants) are classified as LP and 0.34 % (1 variants) are classified as B after PP3 criterion application.

    Journal: Molecular Genetics and Metabolism Reports

    Article Title: Identification of novel variants in carbamoyl phosphate synthetase 1 gene and comparative pathogenicity assessments of CPS1 missense variants following ACMG/AMP-ClinGen recommendation for computational tools

    doi: 10.1016/j.ymgmr.2025.101208

    Figure Lengend Snippet: Distribution and flow changes of CPS1 pathogenicity classification in ClinVar. A. Left: 95.12 % (312 variants) are classified as VUS, 4.57 % (15 variants) are classified as LP and 0.3 % (1 variant) are classified as B in ClinVar Database before PP3 criterion application; Right: 89.63 % (294 variants) are classified as VUS, 9.45 % (31 variants) are classified as LP and 0.61 % (2 variants) are classified as P and 0.3 % (1 variant) are classified as B in ClinVar Database after PP3 criterion application. B. Reported variants group; Left: 67.57 % (25 variants) are classified as VUS and 32.43 % (12 variants) are classified as LP before PP3 criterion application; Right: 18.92 % (7 variants) are classified as VUS, 75.68 % (28 variants) are classified as LP and 5.41 % (2 variants) are classified as P after PP3 criterion application. C. Unreported variants group; Left: 98.63 % (287 variants) are classified as VUS, 1.03 % (3 variants) are classified as LP and 0.34 % (1 variants) are classified as B before PP3 criterion application; Right: 98.63 % (287 variants) are classified as VUS, 1.03 % (3 variants) are classified as LP and 0.34 % (1 variants) are classified as B after PP3 criterion application.

    Article Snippet: In this study, we presented the detailed laboratory features and genetic analysis of two patients with heterozygous variants of CPS1, c.1927 A > G (p.Asn643Asp), c.2375 T > G (p.Met792Arg), c.3443 T > A (p.Met1148Lys) in patient 1; c.3784C > T (p.Arg1262Ter), c.3734 T > A (p.Leu1245His) in patient 2, respectively. c.1927 A > G (p.Asn643Asp) and c.2375 T > G (p.Met792Arg) are novel out of 5 variants and classified as variants of uncertain significance (VUS) under the guidelines of ACMG/AMP-ClinGen.

    Techniques: Variant Assay