ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1913A>C (p.Glu638Ala)

dbSNP: rs786201944
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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 RCV000164490 SCV000215139 uncertain significance Hereditary cancer-predisposing syndrome 2014-05-16 criteria provided, single submitter clinical testing The p.E638A variant (also known as c.1913A>C or 2032A>C), located in coding exon 9 of the BRCA1 gene, results from an A to C substitution at nucleotide position 1913. The glutamic acid at codon 638 is replaced by alanine, an amino acid with dissimilar 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.To date, this alteration has been detected with an allele frequency of approximately 0.002% (greater than 42,000 alleles tested) in our clinical cohort (includes this individual). Based on protein sequence alignment, this amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be probably damaging and deleterious by PolyPhen and SIFT in silico analyses, respectively. Since supporting evidence is limited at this time, the clinical significance of p.E638A remains unclear.
University of Washington Department of Laboratory Medicine, University of Washington RCV000164490 SCV003849641 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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