ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1114_1117delinsCATT (p.Asn372_Gln373delinsHisTer)

dbSNP: rs879255323
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneKor MSA RCV000238937 SCV000296810 pathogenic Familial cancer of breast 2020-01-01 criteria provided, single submitter clinical testing This variant is a single amino acid change from Glutamine to a Termination codon at amino acid residue 373 of the BRCA2 gene. It results in a truncated non-functional protein. Truncating variants in the BRCA2 gene are known to be pathogenic. The mutation database ClinVar contains entries for this variant (Variation ID: 51065).

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