ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3659_3662delinsG (p.Tyr1220_Ser1221delinsCys)

dbSNP: rs1555283342
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567482 SCV000664815 uncertain significance Hereditary cancer-predisposing syndrome 2017-04-03 criteria provided, single submitter clinical testing The c.3659_3662delATTCinsG variant (also known as p.Y1220_S1221delinsC), located in coding exon 10 of the BRCA2 gene, results from an in-frame deletion of ATTC and insertion of G at nucleotide positions 3659 to 3662. This results in the substitution of the tyrosine and serine residues for a cysteine residue at codon 1220. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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