NM_000051.4(ATM):c.4396C>G (p.Arg1466Gly) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Aug 23, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000212014.3

Allele description [Variation Report for NM_000051.4(ATM):c.4396C>G (p.Arg1466Gly)]

NM_000051.4(ATM):c.4396C>G (p.Arg1466Gly)

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.4396C>G (p.Arg1466Gly)
Other names:
p.R1466G:CGA>GGA
HGVS:
  • NC_000011.10:g.108289761C>G
  • NG_009830.1:g.71930C>G
  • NM_000051.3:c.4396C>G
  • NM_000051.4:c.4396C>GMANE SELECT
  • NM_001351834.2:c.4396C>G
  • NP_000042.3:p.Arg1466Gly
  • NP_000042.3:p.Arg1466Gly
  • NP_001338763.1:p.Arg1466Gly
  • LRG_135t1:c.4396C>G
  • LRG_135:g.71930C>G
  • LRG_135p1:p.Arg1466Gly
  • NC_000011.9:g.108160488C>G
  • p.R1466G
Protein change:
R1466G
Links:
dbSNP: rs730881369
NCBI 1000 Genomes Browser:
rs730881369
Molecular consequence:
  • NM_000051.3:c.4396C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000051.4:c.4396C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.4396C>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
SCV000209735GeneDxcriteria provided, single submitter
Uncertain significance
(Aug 23, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000209735.14

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

Description

This variant is denoted ATM c.4396C>G at the cDNA level, p.Arg1466Gly (R1466G) at the protein level, and results in the change of an Arginine to a Glycine (CGA>GGA). This variant has been observed in at least two individuals with breast cancer and one healthy control (Tung 2015, Decker 2017, Tiao 2017). ATM Arg1466Gly was not observed at a significant allele frequency in large population cohorts (Lek 2016). ATM Arg1466Gly is not located within a known functional domain. In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether ATM Arg1466Gly is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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

Last Updated: Oct 25, 2021

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