NM_001184.4(ATR):c.5987T>C (p.Met1996Thr) AND none provided

Clinical significance:Likely benign (Last evaluated: Dec 18, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001289580.1

Allele description [Variation Report for NM_001184.4(ATR):c.5987T>C (p.Met1996Thr)]

NM_001184.4(ATR):c.5987T>C (p.Met1996Thr)

Gene:
ATR:ATR serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q23
Genomic location:
Preferred name:
NM_001184.4(ATR):c.5987T>C (p.Met1996Thr)
HGVS:
  • NC_000003.12:g.142493223A>G
  • NG_008951.1:g.90604T>C
  • NM_001184.4:c.5987T>CMANE SELECT
  • NM_001354579.2:c.5795T>C
  • NP_001175.2:p.Met1996Thr
  • NP_001341508.1:p.Met1932Thr
  • LRG_1403t1:c.5987T>C
  • LRG_1403:g.90604T>C
  • LRG_1403p1:p.Met1996Thr
  • NC_000003.11:g.142212065A>G
  • NM_001184.3:c.5987T>C
Protein change:
M1932T
Links:
dbSNP: rs150339560
NCBI 1000 Genomes Browser:
rs150339560
Molecular consequence:
  • NM_001184.4:c.5987T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354579.2:c.5795T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
none provided
Identifiers:
MedGen: CN235283

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001477541ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Likely benign
(Dec 18, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV001477541.1

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

Last Updated: Jun 14, 2021

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