NM_000051.4(ATM):c.3154-1G>A AND Familial cancer of breast

Clinical significance:Pathogenic (Last evaluated: Sep 1, 2019)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001171403.1

Allele description [Variation Report for NM_000051.4(ATM):c.3154-1G>A]

NM_000051.4(ATM):c.3154-1G>A

Gene:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.3154-1G>A
HGVS:
  • NC_000011.10:g.108272721G>A
  • NG_009830.1:g.54890G>A
  • NM_000051.4:c.3154-1G>AMANE SELECT
  • NM_001351834.2:c.3154-1G>A
  • LRG_135t1:c.3154-1G>A
  • LRG_135:g.54890G>A
  • NC_000011.9:g.108143448G>A
  • NM_000051.3:c.3154-1G>A
Links:
dbSNP: rs1555085973
NCBI 1000 Genomes Browser:
rs1555085973
Molecular consequence:
  • NM_000051.4:c.3154-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001351834.2:c.3154-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial; CHEK2-Related Breast Cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001251307King Laboratory,University of Washingtonno assertion criteria providedPathogenic
(Sep 1, 2019)
germlineresearch

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

Description

Transcript analysis by cBROCA

SCV001251307

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Characterization of splice-altering mutations in inherited predisposition to cancer.

Casadei S, Gulsuner S, Shirts BH, Mandell JB, Kortbawi HM, Norquist BS, Swisher EM, Lee MK, Goldberg Y, O'Connor R, Tan Z, Pritchard CC, King MC, Walsh T.

Proc Natl Acad Sci U S A. 2019 Dec 16. doi:pii: 201915608. 10.1073/pnas.1915608116. [Epub ahead of print]

PubMed [citation]
PMID:
31843900
PMCID:
PMC6936554

Details of each submission

From King Laboratory,University of Washington, SCV001251307.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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