ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3688T>G (p.Ser1230Ala)

dbSNP: rs876659979
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000223339 SCV000276984 uncertain significance Hereditary cancer-predisposing syndrome 2015-06-24 criteria provided, single submitter clinical testing The p.S1230A variant (also known as c.3688T>G or3916T<span style="background-color:rgb(255, 255, 255); font-family:sans-serif,arial,verdana,trebuchet ms; font-size:13px">>G), located in coding exon 10 of the BRCA2 gene, results from a T to G substitution at nucleotide position 3688. The serine at codon 1230 is replaced by alanine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6502 samples (13004 alleles) with coverage of 6502 at this position.To date, this alteration has been detected with an allele frequency of approximately 0.001% (greater than 105000 alleles tested) in our clinical cohort.This amino acid position is well conserved in available vertebrate species.In addition, this alteration is predicted to be tolerated by in silico analysis.Since supporting evidence is limited at this time, the clinical significance of p.S1230Aremains unclear.
University of Washington Department of Laboratory Medicine, University of Washington RCV000223339 SCV003846797 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

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