ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.108+2_108+12delinsCGGC

dbSNP: rs1597101736
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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 RCV001009843 SCV001169959 likely pathogenic Hereditary cancer-predisposing syndrome 2018-05-16 criteria provided, single submitter clinical testing The c.108+2_108+12del11insCGGC intronic variant, located in intron 2 of the PALB2 gene, results from an in-frame from the deletion of 11 nucleotides and the insertion of 4 nucleotides at nucleotide position 108. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice donor site; however, direct evidence is unavailable. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic.

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