ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8246_8248AGA[1] (p.Lys2750del) (rs80359703)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164620 SCV000215284 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Insufficient evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000077433 SCV000147310 uncertain significance Breast-ovarian cancer, familial 2 2001-10-29 no assertion criteria provided clinical testing
Counsyl RCV000077433 SCV000488185 uncertain significance Breast-ovarian cancer, familial 2 2016-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000497282 SCV000210792 uncertain significance not provided 2015-01-27 criteria provided, single submitter clinical testing This deletion of 3 nucleotides is denoted BRCA2 c.8249_8251delAGA at the cDNA level and p.Lys2750del at the protein level. The normal sequence, with the bases that are deleted in brackets, is CAGA[AGA]TTAT. This in frame deletion occurs in a region which is well conserved and is located in the DNA-binding domain (Borg 2010). This variant, previously published as 8477delAGA using alternate nomenclature, has been observed in an individual with breast cancer who had a family history of breast and ovarian cancer (Negura 2010). Since in frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider BRCA2 Lys2750del to be a variant of uncertain significance.
Invitae RCV000792991 SCV000932322 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-12-25 criteria provided, single submitter clinical testing This variant, c.8249_8251delAGA, results in the deletion of 1 amino acid of the BRCA2 protein (p.Lys2750del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with a personal or family history of breast and/or ovarian cancer (PMID: 20567915, 28324225, 18092194). This variant is also known as 8477delAGA or K2750delAGA in the literature. ClinVar contains an entry for this variant (Variation ID: 52537). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Sharing Clinical Reports Project (SCRP) RCV000077433 SCV000109231 uncertain significance Breast-ovarian cancer, familial 2 2012-09-07 no assertion criteria provided clinical testing

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