ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.157A>C (p.Ser53Arg)

gnomAD frequency: 0.00019  dbSNP: rs61757383
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000231985 SCV000283546 benign Fanconi anemia 2024-12-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094448 SCV000399889 uncertain significance Fanconi anemia complementation group A 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CeGaT Center for Human Genetics Tuebingen RCV001092318 SCV001248756 uncertain significance not provided 2019-11-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001094448 SCV002030194 uncertain significance Fanconi anemia complementation group A 2021-11-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Sema4, Sema4 RCV000231985 SCV002534918 uncertain significance Fanconi anemia 2021-05-30 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV001094448 SCV002794302 uncertain significance Fanconi anemia complementation group A 2024-05-24 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001092318 SCV004221927 uncertain significance not provided 2023-12-27 criteria provided, single submitter clinical testing The FANCA c.157A>C (p.Ser53Arg) variant has been reported in the published literature in individuals with ovarian cancer (PMID: 32546565 (2021)) and pancreatic cancer (PMID: 35171259 (2022). In addition, this variant is reported in an individual with cutaneous melanoma, breast cancer, and lung cancer (PMID: 29641532 (2018)). The frequency of this variant in the general population, 0.00036 (9/24968 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.
Natera, Inc. RCV001094448 SCV001462966 uncertain significance Fanconi anemia complementation group A 2020-01-17 no assertion criteria provided clinical testing

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