ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.212+3A>T

dbSNP: rs80358083
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001044820 SCV001208639 likely pathogenic Hereditary breast ovarian cancer syndrome 2019-03-22 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. A different variant affecting this nucleotide (c.212+3A>G) has been determined to be pathogenic (PMID: 10595255, 15026808, 9150151, 10090482, 12037674, 21673748). This suggests that this nucleotide is important for normal RNA splicing, and that other variants at this position may also be pathogenic. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this variant disrupts mRNA splicing and/or protein function (PMID: 30209399). This variant has been observed in individuals affected with or at high risk of breast and/or ovarian cancer (PMID: 30702160, 27157322). This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 4 of the BRCA1 gene. It does not directly change the encoded amino acid sequence of the BRCA1 protein, but it affects a nucleotide within the consensus splice site of the intron.
Brotman Baty Institute, University of Washington RCV001072652 SCV001238072 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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