ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.3446_3447insAGTACAGC (p.Leu1150fs)

dbSNP: rs2142253658
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Praenatalmedizin und Genetik Nuernberg RCV001775205 SCV002011865 likely pathogenic Familial cancer of breast 2021-06-30 no assertion criteria provided clinical testing This variant was not listed in the databases (ClinVar, LOVD). GnomAD shows no entry for this variant (very rare or private variant). This variant results in a premature stop-codon in the last exon of PALB2. Therefore we do not expect nonsense mediated decay. This out-of-frame-insertion affects the C-terminal domain of the PALB2 protein, which was suggested by Sy et al. to be crucial for correct PALB2-functioning (PMID:19423707). Taken together, we classify this variant as likely pathogenic.

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