ClinVar Miner

Submissions for variant NM_024675.3(PALB2):c.2834+1G>T (rs587776419)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000133481 SCV000322191 likely pathogenic not provided 2016-05-11 criteria provided, single submitter clinical testing This variant is denoted PALB2 c.2834+1G>T or IVS8+1G>T and consists of a G>T nucleotide substitution at the +1 position of intron 8 of the PALB2 gene. This variant destroys a canonical splice donor site and is predicted to cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. This variant has been reported in at least one family with breast and/or ovarian cancer (Antoniou 2014). Based on the currently available information, we consider PALB2 c.2834+1G>T to be a likely pathogenic variant.
Counsyl RCV000411304 SCV000488978 likely pathogenic Familial cancer of breast 2016-07-29 criteria provided, single submitter clinical testing
Invitae RCV000411304 SCV000633380 likely pathogenic Familial cancer of breast 2017-01-20 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 8 of the PALB2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in a family with breast and/or ovarian cancer (PMID: 25099575). ClinVar contains an entry for this variant (Variation ID: 143968). In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in PALB2 are known to be pathogenic (PMID: 25099575, 17200668). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.
Ambry Genetics RCV000567638 SCV000670660 likely pathogenic Hereditary cancer-predisposing syndrome 2016-09-21 criteria provided, single submitter clinical testing Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity;Rarity in general population databases (dbsnp, esp, 1000 genomes);In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Fulgent Genetics,Fulgent Genetics RCV000763377 SCV000894074 pathogenic Familial cancer of breast; Fanconi anemia, complementation group N; Pancreatic cancer 3 2018-10-31 criteria provided, single submitter clinical testing
SNPedia RCV000133481 SCV000188555 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.
Leiden Open Variation Database RCV000411304 SCV001193295 pathogenic Familial cancer of breast 2019-05-13 no assertion criteria provided curation Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitter to LOVD: Marc Tischkowitz.

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