ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.2156del (p.Pro719fs)

dbSNP: rs876660193
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000216333 SCV000277403 pathogenic Hereditary cancer-predisposing syndrome 2015-07-23 criteria provided, single submitter clinical testing The c.2156delC pathogenic mutation, located in coding exon 5 of the PALB2 gene, results from a deletion of one nucleotide at position 2156, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Counsyl RCV000663079 SCV000786156 likely pathogenic Familial cancer of breast 2018-03-12 criteria provided, single submitter clinical testing

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