U.S. flag

An official website of the United States government

NM_000051.4(ATM):c.2030G>A (p.Ser677Asn) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 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:
RCV003317464.1

Allele description [Variation Report for NM_000051.4(ATM):c.2030G>A (p.Ser677Asn)]

NM_000051.4(ATM):c.2030G>A (p.Ser677Asn)

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.2030G>A (p.Ser677Asn)
HGVS:
  • NC_000011.10:g.108253945G>A
  • NG_009830.1:g.36114G>A
  • NM_000051.4:c.2030G>AMANE SELECT
  • NM_001351834.2:c.2030G>A
  • NP_000042.3:p.Ser677Asn
  • NP_001338763.1:p.Ser677Asn
  • LRG_135t1:c.2030G>A
  • LRG_135:g.36114G>A
  • NC_000011.9:g.108124672G>A
  • NM_000051.3:c.2030G>A
Protein change:
S677N
Links:
dbSNP: rs2080308052
NCBI 1000 Genomes Browser:
rs2080308052
Molecular consequence:
  • NM_000051.4:c.2030G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.2030G>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
SCV004020710Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jun 20, 2023) 		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

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Momozawa Y, Iwasaki Y, Parsons MT, Kamatani Y, Takahashi A, Tamura C, Katagiri T, Yoshida T, Nakamura S, Sugano K, Miki Y, Hirata M, Matsuda K, Spurdle AB, Kubo M.

Nat Commun. 2018 Oct 4;9(1):4083. doi: 10.1038/s41467-018-06581-8.

PubMed [citation]
PMID:
30287823
PMCID:
PMC6172276

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004020710.1

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

Description

Variant summary: ATM c.2030G>A (p.Ser677Asn) 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 allele was not found in 251404 control chromosomes in GnomAD, however, it was reported at an allelic frequency of 0.00004 in 24980 control chromosomes in a Japanese case-control study (Momozawa_2018). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2030G>A in individuals affected with Breast Cancer and no experimental evidence demonstrating its impact on protein function have been reported. The following publication has been ascertained in the context of this evaluation (PMID: 30287823). Two submitters have cited clinical-significance assessments (both uncertain significance) for this variant to ClinVar after 2014. 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