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NM_024675.4(PALB2):c.2245G>T (p.Glu749Ter) AND Pancreatic cancer, susceptibility to, 3

Germline classification:
Likely pathogenic (1 submission)
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003338667.2

Allele description [Variation Report for NM_024675.4(PALB2):c.2245G>T (p.Glu749Ter)]

NM_024675.4(PALB2):c.2245G>T (p.Glu749Ter)

Gene:
PALB2:partner and localizer of BRCA2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p12.2
Genomic location:
Preferred name:
NM_024675.4(PALB2):c.2245G>T (p.Glu749Ter)
HGVS:
  • NC_000016.10:g.23629909C>A
  • NG_007406.1:g.16449G>T
  • NM_024675.4:c.2245G>TMANE SELECT
  • NP_078951.2:p.Glu749Ter
  • NP_078951.2:p.Glu749Ter
  • LRG_308t1:c.2245G>T
  • LRG_308:g.16449G>T
  • LRG_308p1:p.Glu749Ter
  • NC_000016.9:g.23641230C>A
  • NM_024675.3:c.2245G>T
Protein change:
E749*
Links:
dbSNP: rs1555460431
NCBI 1000 Genomes Browser:
rs1555460431
Molecular consequence:
  • NM_024675.4:c.2245G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Pancreatic cancer, susceptibility to, 3
Synonyms:
Pancreatic cancer 3
Identifiers:
MONDO: MONDO:0013236; MedGen: C3150547; Orphanet: 1333; OMIM: 613348

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004047036Neuberg Centre For Genomic Medicine, NCGM
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenicgermlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Neuberg Centre For Genomic Medicine, NCGM, SCV004047036.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The stop gained variant c.2245G>T (p.Glu749Ter) in PALB2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant has been reported to the ClinVar database as Pathogenic. Null variant (nonsense), in gene PALB2 for which loss-of-function is a known mechanism of disease. The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The nucleotide change in PALB2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Likely Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024