ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3138_3141del (p.Gly1048fs) (rs1064794177)

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Total submissions: 3
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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) RCV000661107 SCV000783355 pathogenic Breast-ovarian cancer, familial 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000479678 SCV000568092 pathogenic not provided 2015-09-28 criteria provided, single submitter clinical testing This deletion of 4 nucleotides in BRCA1 is denoted c.3138_3141delAGTA at the cDNA level and p.Gly1048ProfsX13 (G1048PfsX13) at the protein level. The normal sequence, with the bases that are deleted in braces, is ATGA[AGTA]GGTT. The deletion causes a frameshift, which changes a Glycine to a Proline at codon 1048, and creates a premature stop codon at position 13 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.
Counsyl RCV000661107 SCV000784787 likely pathogenic Breast-ovarian cancer, familial 1 2017-10-06 criteria provided, single submitter clinical testing

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