ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9107AAC[1] (p.Gln3037del)

dbSNP: rs1064794358
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479615 SCV000568942 uncertain significance not provided 2015-12-01 criteria provided, single submitter clinical testing This in-frame deletion of 3 nucleotides in BRCA2 is denoted c.9110_9112delAAC at the cDNA level and p.Gln3037del (Q3037del) at the protein level. The normal sequence, with the bases that are deleted in braces, is CAAC[AAC]TACC. This deletion of a single Glutamine residue in exon 23 occurs at a position that is not conserved across species and is located within the DNA binding domain (Borg 2010). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. 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 Gln3037del to be a variant of uncertain significance.
Ambry Genetics RCV000562161 SCV000661397 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-14 criteria provided, single submitter clinical testing The c.9110_9112delAAC variant (also known as p.Q3037del) is located in coding exon 22 of the BRCA2 gene. This variant results from an in-frame AAC deletion at nucleotide positions 9110 to 9112. This results in the in-frame deletion of a glutamine at codon 3037. This amino acid position is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001865448 SCV002219499 uncertain significance Hereditary breast ovarian cancer syndrome 2022-08-23 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 420223). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.9110_9112del, results in the deletion of 1 amino acid(s) of the BRCA2 protein (p.Gln3037del), but otherwise preserves the integrity of the reading frame.

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