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NM_000051.4(ATM):c.2051A>G (p.Gln684Arg) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 3, 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:
RCV001824657.1

Allele description [Variation Report for NM_000051.4(ATM):c.2051A>G (p.Gln684Arg)]

NM_000051.4(ATM):c.2051A>G (p.Gln684Arg)

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.2051A>G (p.Gln684Arg)
HGVS:
  • NC_000011.10:g.108253966A>G
  • NG_009830.1:g.36135A>G
  • NM_000051.4:c.2051A>GMANE SELECT
  • NM_001351834.2:c.2051A>G
  • NP_000042.3:p.Gln684Arg
  • NP_000042.3:p.Gln684Arg
  • NP_001338763.1:p.Gln684Arg
  • LRG_135t1:c.2051A>G
  • LRG_135:g.36135A>G
  • LRG_135p1:p.Gln684Arg
  • NC_000011.9:g.108124693A>G
  • NM_000051.3:c.2051A>G
  • p.Q684R
Protein change:
Q684R
Links:
dbSNP: rs772393149
NCBI 1000 Genomes Browser:
rs772393149
Molecular consequence:
  • NM_000051.4:c.2051A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.2051A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002074295Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jan 3, 2022) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Pathogenic and likely pathogenic variants in PALB2, CHEK2, and other known breast cancer susceptibility genes among 1054 BRCA-negative Hispanics with breast cancer.

Weitzel JN, Neuhausen SL, Adamson A, Tao S, Ricker C, Maoz A, Rosenblatt M, Nehoray B, Sand S, Steele L, Unzeitig G, Feldman N, Blanco AM, Hu D, Huntsman S, Castillo D, Haiman C, Slavin T, Ziv E.

Cancer. 2019 Aug 15;125(16):2829-2836. doi: 10.1002/cncr.32083. Epub 2019 Jun 17.

PubMed [citation]
PMID:
31206626
PMCID:
PMC7376605

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002074295.1

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

Description

Variant summary: ATM c.2051A>G (p.Gln684Arg) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.6e-05 in 251386 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.2051A>G has not been reported in the literature in individuals affected with Breast Cancer. Co-occurrence with a pathogenic variant has been reported (BRCA2 c.1310_1313delAAGA, p.K437fs*22), providing supporting evidence for a benign role. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and all laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Sep 29, 2024