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NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) AND Breast and/or ovarian cancer

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 28, 2022
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:
RCV003492629.1

Allele description [Variation Report for NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)]

NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)

Genes:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
C11orf65:chromosome 11 open reading frame 65 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
Other names:
p.V2716A:GTT>GCT
HGVS:
  • NC_000011.10:g.108335105T>C
  • NG_009830.1:g.117274T>C
  • NG_054724.1:g.139728A>G
  • NM_000051.4:c.8147T>CMANE SELECT
  • NM_001330368.2:c.641-26034A>G
  • NM_001351110.2:c.*38+115A>G
  • NM_001351834.2:c.8147T>C
  • NP_000042.3:p.Val2716Ala
  • NP_000042.3:p.Val2716Ala
  • NP_000042.3:p.Val2716Ala
  • NP_001338763.1:p.Val2716Ala
  • LRG_135t1:c.8147T>C
  • LRG_135:g.117274T>C
  • LRG_135p1:p.Val2716Ala
  • NC_000011.9:g.108205832T>C
  • NM_000051.3:c.8147T>C
  • p.V2716A
Protein change:
V2716A
Links:
dbSNP: rs587782652
NCBI 1000 Genomes Browser:
rs587782652
Molecular consequence:
  • NM_001330368.2:c.641-26034A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*38+115A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000051.4:c.8147T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.8147T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Breast and/or ovarian cancer
Identifiers:
MedGen: CN221562

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004239538CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Oct 28, 2022) 		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 CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario, SCV004239538.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024