NM_000051.4(ATM):c.5618G>A (p.Cys1873Tyr) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Apr 6, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000587287.1

Allele description [Variation Report for NM_000051.4(ATM):c.5618G>A (p.Cys1873Tyr)]

NM_000051.4(ATM):c.5618G>A (p.Cys1873Tyr)

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.5618G>A (p.Cys1873Tyr)
HGVS:
  • NC_000011.10:g.108304796G>A
  • NG_009830.1:g.86965G>A
  • NM_000051.4:c.5618G>AMANE SELECT
  • NM_001351834.2:c.5618G>A
  • NP_000042.3:p.Cys1873Tyr
  • NP_000042.3:p.Cys1873Tyr
  • NP_001338763.1:p.Cys1873Tyr
  • LRG_135t1:c.5618G>A
  • LRG_135:g.86965G>A
  • LRG_135p1:p.Cys1873Tyr
  • NC_000011.9:g.108175523G>A
  • NM_000051.3:c.5618G>A
Protein change:
C1873Y
Links:
dbSNP: rs587782239
NCBI 1000 Genomes Browser:
rs587782239
Molecular consequence:
  • NM_000051.4:c.5618G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.5618G>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
SCV000694304Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Uncertain significance
(Apr 6, 2017)
germlineclinical testing

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

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, SCV000694304.1

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

Description

Variant summary: The c.5618G>A (p.Cys1873Tyr) in ATM gene is a missense change that involves a non-conserved nucleotide and 2/4 in silico tools predict benign outcome. The variant of interest is located outside of any known functional domain. The variant is absent from the control population dataset of ExAC (0/120620chrs tested), but is identified in 3/30954chrs tested of gnomAD dataset. This variant has not, to our knowledge, been reported in affected individuals via published reports, but is cited as VUS by a reputable database/clinical laboratory. Taking together, the variant was classified as VUS.

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

Last Updated: Dec 4, 2021

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