ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1321_1324del (p.Thr441fs) (rs1064793572)

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Total submissions: 2
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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) RCV000661813 SCV000784135 pathogenic Breast-ovarian cancer, familial 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000484432 SCV000566479 pathogenic not provided 2016-07-20 criteria provided, single submitter clinical testing This deletion of 4 nucleotides in BRCA2 is denoted c.1321_1324delACTT at the cDNA level and p.Thr441GlnfsX18 (T441QfsX18) at the protein level. The normal sequence, with the bases that are deleted in braces, is TCTT[ACTT]CAGA. The deletion causes a frameshift, which changes a Threonine to a Glutamine at codon 441, and creates a premature stop codon at position 18 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA2 c.1321_1324delACTT, previously reported as 1548del4 or 1549_1552delACTT, has been observed in the homozygous state in an infant with Fanconi Anemia (Faivre 2005). We consider this variant to be pathogenic.

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