ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6034del (p.Ser2012fs)

dbSNP: rs397507823
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000490547 SCV000783980 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Genologica Medica RCV000490547 SCV000577961 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2017-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000657266 SCV000778997 pathogenic not provided 2016-11-18 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA2 is denoted c.6034delT at the cDNA level and p.Ser2012ProfsX28 (S2012PfsX28) at the protein level. Using alternate nomenclature this variant would be defined as BRCA2 6262delT. The normal sequence, with the base that is deleted in brackets, is CTTT[delT]CCAA. The deletion causes a frameshift which changes a Serine to a Proline at codon 2012, and creates a premature stop codon at position 28 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001210030 SCV001381494 pathogenic Hereditary breast ovarian cancer syndrome 2019-06-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant has been observed in an individual affected with breast cancer (PMID: 29884136). ClinVar contains an entry for this variant (Variation ID: 427240). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser2012Profs*28) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product.
BRCAlab, Lund University RCV000490547 SCV002588897 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2022-08-26 no assertion criteria provided clinical testing

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