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NM_001184.4(ATR):c.632T>C (p.Met211Thr) AND Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 7, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003315603.8

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]

Condition(s)

Name:
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Synonyms:
Cutaneous telangiectasia and cancer syndrome, familial
Identifiers:
MONDO: MONDO:0013806; MedGen: C3281203; Orphanet: 313846; OMIM: 614564

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004015567KCCC/NGS Laboratory, Kuwait Cancer Control Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jul 7, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From KCCC/NGS Laboratory, Kuwait Cancer Control Center, SCV004015567.1

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

Last Updated: Oct 26, 2024