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NM_007194.4(CHEK2):c.319+2T>A AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 31, 2019
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:
RCV001258067.7

Allele description [Variation Report for NM_007194.4(CHEK2):c.319+2T>A]

NM_007194.4(CHEK2):c.319+2T>A

Gene:
CHEK2:checkpoint kinase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q12.1
Genomic location:
Preferred name:
NM_007194.4(CHEK2):c.319+2T>A
HGVS:
  • NC_000022.11:g.28734401A>T
  • NG_008150.2:g.12466T>A
  • NM_001005735.2:c.319+2T>A
  • NM_001257387.2:c.-459+2T>A
  • NM_001349956.2:c.319+2T>A
  • NM_007194.4:c.319+2T>AMANE SELECT
  • NM_145862.2:c.319+2T>A
  • LRG_302t1:c.319+2T>A
  • LRG_302:g.12466T>A
  • NC_000022.10:g.29130389A>T
  • NM_001005735.1:c.319+2T>A
  • NM_007194.3:c.319+2T>A
Links:
dbSNP: rs587782401
NCBI 1000 Genomes Browser:
rs587782401
Molecular consequence:
  • NM_001005735.2:c.319+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001257387.2:c.-459+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001349956.2:c.319+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007194.4:c.319+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_145862.2:c.319+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Breast cancer, susceptibility to
Identifiers:
MedGen: C3469522
Name:
RECLASSIFIED - CDH1 POLYMORPHISM
Synonyms:
Prostate cancer, susceptibility to
Identifiers:
MedGen: CN300425

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001434899Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Dec 31, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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 Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine, SCV001434899.1

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

Description

This c.319+2T>A variant in CHEK2 gene affects 5’ splice site of intron 2. The variant is expected to disrupt normal splicing of CHEK2 mRNA, leading to an absent or abnormal protein product. This variant has been reported in multiple unrelated individuals with breast, colorectal and thyroid cancers (PMID: 28386063, 27696107, 28608266). It is present in 29/282228 alleles in the gnomAD population database. Based on the currently available information, the CHEK2 c.319+2T>A variant has been classified as likely pathogenic.

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

Last Updated: Oct 20, 2024