NM_000051.4(ATM):c.3295G>A (p.Asp1099Asn) AND not provided

Clinical significance:Uncertain significance (Last evaluated: May 13, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000590021.3

Allele description [Variation Report for NM_000051.4(ATM):c.3295G>A (p.Asp1099Asn)]

NM_000051.4(ATM):c.3295G>A (p.Asp1099Asn)

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.3295G>A (p.Asp1099Asn)
HGVS:
  • NC_000011.10:g.108279501G>A
  • NG_009830.1:g.61670G>A
  • NM_000051.3:c.3295G>A
  • NM_000051.4:c.3295G>AMANE SELECT
  • NM_001351834.2:c.3295G>A
  • NP_000042.3:p.Asp1099Asn
  • NP_000042.3:p.Asp1099Asn
  • NP_001338763.1:p.Asp1099Asn
  • LRG_135t1:c.3295G>A
  • LRG_135:g.61670G>A
  • LRG_135p1:p.Asp1099Asn
  • NC_000011.9:g.108150228G>A
Protein change:
D1099N
Links:
dbSNP: rs372966951
NCBI 1000 Genomes Browser:
rs372966951
Molecular consequence:
  • NM_000051.3:c.3295G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000051.4:c.3295G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.3295G>A - 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
SCV000564627GeneDxcriteria provided, single submitter
Uncertain significance
(May 13, 2021)
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, SCV000564627.4

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

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Observed in individuals with breast, colorectal, and other cancers (Tavtigian 2009, Yurgelun 2017, Chan SH 2018, Chan GHJ 2018); This variant is associated with the following publications: (PMID: 21787400, 26787654, 19781682, 25231023, 12697903, 28135145, 30455982, 30093976)

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

Last Updated: Oct 30, 2021

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