ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.-5G>T

gnomAD frequency: 0.00001  dbSNP: rs730881875
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160825 SCV000211498 likely benign not specified 2014-08-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000561746 SCV000665063 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-09 criteria provided, single submitter clinical testing The c.-5G>T variant is located in the 5' untranslated region (5’ UTR) of the PALB2 gene. This variant results from a G to T substitution 5 bases upstream from the first translated codon. This nucleotide 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.
Color Diagnostics, LLC DBA Color Health RCV000561746 SCV000690756 likely benign Hereditary cancer-predisposing syndrome 2017-10-08 criteria provided, single submitter clinical testing

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