U.S. flag

An official website of the United States government

NM_000051.4(ATM):c.5329G>A (p.Val1777Ile) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 20, 2023
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:
RCV003230516.1

Allele description [Variation Report for NM_000051.4(ATM):c.5329G>A (p.Val1777Ile)]

NM_000051.4(ATM):c.5329G>A (p.Val1777Ile)

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.5329G>A (p.Val1777Ile)
HGVS:
  • NC_000011.10:g.108302862G>A
  • NG_009830.1:g.85031G>A
  • NM_000051.4:c.5329G>AMANE SELECT
  • NM_001351834.2:c.5329G>A
  • NP_000042.3:p.Val1777Ile
  • NP_000042.3:p.Val1777Ile
  • NP_001338763.1:p.Val1777Ile
  • LRG_135t1:c.5329G>A
  • LRG_135:g.85031G>A
  • LRG_135p1:p.Val1777Ile
  • NC_000011.9:g.108173589G>A
  • NM_000051.3:c.5329G>A
Protein change:
V1777I
Links:
dbSNP: rs1064794192
NCBI 1000 Genomes Browser:
rs1064794192
Molecular consequence:
  • NM_000051.4:c.5329G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.5329G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003929186Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Apr 20, 2023) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Germline pathogenic variant spectrum in 25 cancer susceptibility genes in Turkish breast and colorectal cancer patients and elderly controls.

Akcay IM, Celik E, Agaoglu NB, Alkurt G, Kizilboga Akgun T, Yildiz J, Enc F, Kir G, Canbek S, Kilic A, Zemheri E, Ezberci F, Ozcelik M, Dinler Doganay G, Doganay L.

Int J Cancer. 2021 Jan 15;148(2):285-295. doi: 10.1002/ijc.33199. Epub 2020 Aug 19.

PubMed [citation]
PMID:
32658311

The Mutational Landscape of Early-Onset Breast Cancer: A Next-Generation Sequencing Analysis.

Andrikopoulou A, Chatzinikolaou S, Kyriopoulos I, Bletsa G, Kaparelou M, Liontos M, Dimopoulos MA, Zagouri F.

Front Oncol. 2021;11:797505. doi: 10.3389/fonc.2021.797505.

PubMed [citation]
PMID:
35127508
PMCID:
PMC8813959

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV003929186.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

Variant summary: ATM c.5329G>A (p.Val1777Ile) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 250556 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.5329G>A has been reported in the literature in individuals affected with breast cancer without strong evidence of causality (Andrikopoulou_2021, Ackay_2021). These reports do not provide unequivocal conclusions about association of the variant with Ataxia-Telangiectasia. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three submitters have provided clinical-significance assessments for this variant to ClinVar after 2014, and 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