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NM_001184.4(ATR):c.632T>C (p.Met211Thr) AND not specified

Germline classification:
Benign/Likely benign (3 submissions)
Last evaluated:
Mar 28, 2016
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000079600.25

Allele description [Variation Report for NM_001184.4(ATR):c.632T>C (p.Met211Thr)]

NM_001184.4(ATR):c.632T>C (p.Met211Thr)

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.632T>C (p.Met211Thr)
HGVS:
  • NC_000003.12:g.142562770A>G
  • NG_008951.1:g.21057T>C
  • NM_001184.4:c.632T>CMANE SELECT
  • NM_001354579.2:c.632T>C
  • NP_001175.2:p.Met211Thr
  • NP_001175.2:p.Met211Thr
  • NP_001341508.1:p.Met211Thr
  • LRG_1403t1:c.632T>C
  • LRG_1403:g.21057T>C
  • LRG_1403p1:p.Met211Thr
  • NC_000003.11:g.142281612A>G
  • NM_001184.3:c.632T>C
  • Q13535:p.Met211Thr
Protein change:
M211T
Links:
UniProtKB: Q13535#VAR_050532; dbSNP: rs2227928
NCBI 1000 Genomes Browser:
rs2227928
Molecular consequence:
  • NM_001184.4:c.632T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354579.2:c.632T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
4

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000111482Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Benign
(Jul 3, 2013) 		germlineclinical testing

Citation Link,

SCV000192403Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2007)		Likely benign
(Apr 25, 2013) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV000538379Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Benign
(Mar 28, 2016) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown4not providednot providednot providednot providedclinical testing

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]
PMID:
18414213

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Eurofins Ntd Llc (ga), SCV000111482.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided4not providednot providednot provided

From Genetic Services Laboratory, University of Chicago, SCV000192403.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000538379.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency

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

Last Updated: Oct 26, 2024