ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8488-15A>G

dbSNP: rs775192142
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001489797 SCV001694350 likely benign Hereditary breast ovarian cancer syndrome 2019-01-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005252 SCV004842000 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2023-12-13 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001355939 SCV001550969 uncertain significance Carcinoma of colon no assertion criteria provided clinical testing The BRCA2 c.8488-15A>G variant was not identified in the literature nor was it identified in the ClinVar, Cosmic, MutDB, LOVD 3.0, UMD-LSDB, BIC Database, ARUP Laboratories, Zhejiang Colon Cancer Database, databases. The variant was also identified in databases. The variant was identified in control databases in 1 of 245902 chromosomes at a frequency of 0.000004 in the following populations: South Asian in 1 of 30782 chromosomes (freq. 0.00003), increasing the likelihood that this may be a low frequency variant in certain populations of origin (Genome Aggregation Consortium Feb 27, 2017). The variant occurs outside of the splicing consensus sequence and 1 of 5 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) predict a greater than 10% difference in splicing; this is not very predictive of pathogenicity. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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