ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.700_701delinsAT (p.Ser234Ile)

dbSNP: rs1593890127
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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 RCV001025910 SCV001188190 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-22 criteria provided, single submitter clinical testing The c.700_701delTCinsAT variant, located in coding exon 8 of the BRCA2 gene, results from an in-frame deletion of TC and insertion of AT at nucleotide positions 700 to 701. This results in the substitution of the serine residue for an isoleucine residue at codon 234, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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