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NM_000051.4(ATM):c.737A>G (p.Asn246Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 9, 2018
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:
RCV000779770.1

Allele description [Variation Report for NM_000051.4(ATM):c.737A>G (p.Asn246Ser)]

NM_000051.4(ATM):c.737A>G (p.Asn246Ser)

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.737A>G (p.Asn246Ser)
HGVS:
  • NC_000011.10:g.108244862A>G
  • NG_009830.1:g.27031A>G
  • NM_000051.4:c.737A>GMANE SELECT
  • NM_001351834.2:c.737A>G
  • NP_000042.3:p.Asn246Ser
  • NP_000042.3:p.Asn246Ser
  • NP_001338763.1:p.Asn246Ser
  • LRG_135t1:c.737A>G
  • LRG_135:g.27031A>G
  • LRG_135p1:p.Asn246Ser
  • NC_000011.9:g.108115589A>G
  • NM_000051.3:c.737A>G
Protein change:
N246S
Links:
dbSNP: rs781023264
NCBI 1000 Genomes Browser:
rs781023264
Molecular consequence:
  • NM_000051.4:c.737A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.737A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000916559Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Feb 9, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000916559.1

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

Description

Variant summary: ATM c.737A>G (p.Asn246Ser) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4.1e-06 in 245766 control chromosomes. 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.737A>G in individuals affected with breast cancer and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments 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