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NM_000051.4(ATM):c.4445G>A (p.Cys1482Tyr) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 12, 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:
RCV000484293.2

Allele description [Variation Report for NM_000051.4(ATM):c.4445G>A (p.Cys1482Tyr)]

NM_000051.4(ATM):c.4445G>A (p.Cys1482Tyr)

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.4445G>A (p.Cys1482Tyr)
HGVS:
  • NC_000011.10:g.108292627G>A
  • NG_009830.1:g.74796G>A
  • NM_000051.4:c.4445G>AMANE SELECT
  • NM_001351834.2:c.4445G>A
  • NP_000042.3:p.Cys1482Tyr
  • NP_000042.3:p.Cys1482Tyr
  • NP_001338763.1:p.Cys1482Tyr
  • LRG_135t1:c.4445G>A
  • LRG_135:g.74796G>A
  • LRG_135p1:p.Cys1482Tyr
  • NC_000011.9:g.108163354G>A
  • NM_000051.3:c.4445G>A
  • p.C1482Y
Protein change:
C1482Y
Links:
dbSNP: rs201277352
NCBI 1000 Genomes Browser:
rs201277352
Molecular consequence:
  • NM_000051.4:c.4445G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.4445G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000566725GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jul 12, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000566725.5

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

Description

This variant is denoted ATM c.4445G>A at the cDNA level, p.Cys1482Tyr (C1482Y) at the protein level, and results in the change of a Cysteine to a Tyrosine (TGT>TAT). This variant has been observed in individuals with lung adenocarcinoma or breast cancer (Lu 2015, Tung 2015). ATM Cys1482Tyr was not observed at a significant allele frequency in large population cohorts (Lek 2016). This variant is not located in a known functional domain. In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether ATM Cys1482Tyr 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: Feb 28, 2024