ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.2630G>A (p.Trp877Ter)

dbSNP: rs876660678
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213186 SCV000278301 pathogenic Hereditary cancer-predisposing syndrome 2015-09-12 criteria provided, single submitter clinical testing The p.W877* pathogenic mutation (also known as c.2630G>A), located in coding exon 7 of the PALB2 gene, results from a G to A substitution at nucleotide position 2630. This changes the amino acid from a tryptophan to a stop codon within coding exon 7. Since premature stop codons 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).
Invitae RCV001064019 SCV001228892 pathogenic Familial cancer of breast 2022-09-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 233842). This variant has not been reported in the literature in individuals affected with PALB2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp877*) in the PALB2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PALB2 are known to be pathogenic (PMID: 17200668, 17200671, 17200672, 24136930, 25099575).
Myriad Genetics, Inc. RCV001064019 SCV004189431 pathogenic Familial cancer of breast 2023-09-13 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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