NM_000051.4(ATM):c.4853G>A (p.Arg1618Gln) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Sep 15, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000994709.4

Allele description [Variation Report for NM_000051.4(ATM):c.4853G>A (p.Arg1618Gln)]

NM_000051.4(ATM):c.4853G>A (p.Arg1618Gln)

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.4853G>A (p.Arg1618Gln)
HGVS:
  • NC_000011.10:g.108295003G>A
  • NG_009830.1:g.77172G>A
  • NM_000051.4:c.4853G>AMANE SELECT
  • NM_001351834.2:c.4853G>A
  • NP_000042.3:p.Arg1618Gln
  • NP_000042.3:p.Arg1618Gln
  • NP_001338763.1:p.Arg1618Gln
  • LRG_135t1:c.4853G>A
  • LRG_135:g.77172G>A
  • LRG_135p1:p.Arg1618Gln
  • NC_000011.9:g.108165730G>A
  • NM_000051.3:c.4853G>A
  • p.R1618Q
Protein change:
R1618Q
Links:
dbSNP: rs765759912
NCBI 1000 Genomes Browser:
rs765759912
Molecular consequence:
  • NM_000051.4:c.4853G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.4853G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001148429CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(Jan 1, 2017)
germlineclinical testing

Citation Link,

SCV001752193GeneDxcriteria provided, single submitter
Uncertain significance
(Sep 15, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001148429.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV001752193.1

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

Description

In silico analysis supports that this missense variant does not alter protein structure/function; Observed in individuals with breast cancer (Girard 2018); This variant is associated with the following publications: (PMID: 30303537, 27150160)

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

Last Updated: Dec 4, 2021

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