NM_000051.4(ATM):c.2887A>G (p.Met963Val) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Oct 15, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000236226.6

Allele description [Variation Report for NM_000051.4(ATM):c.2887A>G (p.Met963Val)]

NM_000051.4(ATM):c.2887A>G (p.Met963Val)

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.2887A>G (p.Met963Val)
HGVS:
  • NC_000011.10:g.108271112A>G
  • NG_009830.1:g.53281A>G
  • NM_000051.3:c.2887A>G
  • NM_000051.4:c.2887A>GMANE SELECT
  • NM_001351834.2:c.2887A>G
  • NP_000042.3:p.Met963Val
  • NP_000042.3:p.Met963Val
  • NP_001338763.1:p.Met963Val
  • LRG_135t1:c.2887A>G
  • LRG_135:g.53281A>G
  • LRG_135p1:p.Met963Val
  • NC_000011.9:g.108141839A>G
  • p.M963V
Protein change:
M963V
Links:
dbSNP: rs374353016
NCBI 1000 Genomes Browser:
rs374353016
Molecular consequence:
  • NM_000051.3:c.2887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000051.4:c.2887A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.2887A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000292902GeneDxcriteria provided, single submitter
Uncertain significance
(Oct 15, 2019)
germlineclinical testing

Citation Link,

SCV001143103Athena Diagnostics Inccriteria provided, single submitter
Uncertain significance
(Dec 3, 2018)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing.

Mandelker D, Zhang L, Kemel Y, Stadler ZK, Joseph V, Zehir A, Pradhan N, Arnold A, Walsh MF, Li Y, Balakrishnan AR, Syed A, Prasad M, Nafa K, Carlo MI, Cadoo KA, Sheehan M, Fleischut MH, Salo-Mullen E, Trottier M, Lipkin SM, Lincoln A, et al.

JAMA. 2017 Sep 5;318(9):825-835. doi: 10.1001/jama.2017.11137. Erratum in: JAMA. 2018 Dec 11;320(22):2381.

PubMed [citation]
PMID:
28873162
PMCID:
PMC5611881

Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Yehia L, Ni Y, Sesock K, Niazi F, Fletcher B, Chen HJL, LaFramboise T, Eng C.

PLoS Genet. 2018 Apr;14(4):e1007352. doi: 10.1371/journal.pgen.1007352.

PubMed [citation]
PMID:
29684080
PMCID:
PMC5933810
See all PubMed Citations (3)

Details of each submission

From GeneDx, SCV000292902.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Observed in an individual with an unspecified cancer (Mandelker 2017); This variant is associated with the following publications: (PMID: 28873162)

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

From Athena Diagnostics Inc, SCV001143103.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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