NM_002253.4(KDR):c.2312C>T (p.Thr771Met) AND Tufted angioma of skin

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 1, 2015
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001849436.1

Allele description [Variation Report for NM_002253.4(KDR):c.2312C>T (p.Thr771Met)]

NM_002253.4(KDR):c.2312C>T (p.Thr771Met)

Gene:
KDR:kinase insert domain receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q12
Genomic location:
Preferred name:
NM_002253.4(KDR):c.2312C>T (p.Thr771Met)
HGVS:
  • NC_000004.12:g.55098758G>A
  • NG_012004.1:g.31838C>T
  • NM_002253.4:c.2312C>TMANE SELECT
  • NP_002244.1:p.Thr771Met
  • LRG_1198t1:c.2312C>T
  • LRG_1198:g.31838C>T
  • LRG_1198p1:p.Thr771Met
  • NC_000004.11:g.55964925G>A
  • NM_002253.2:c.2312C>T
  • NM_002253.3:c.2312C>T
Protein change:
T771M
Links:
dbSNP: rs149745504
NCBI 1000 Genomes Browser:
rs149745504
Molecular consequence:
  • NM_002253.4:c.2312C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Tufted angioma of skin
Synonyms:
Tufted angioma
Identifiers:
MONDO: MONDO:0011927; MedGen: C0346073; Orphanet: 1063; OMIM: 607859; Human Phenotype Ontology: HP:0012329

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002106524Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics
no assertion criteria provided
Likely pathogenic
(Nov 1, 2015) 		somaticliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyes1not providednot providednot providednot providedliterature only

Citations

PubMed

Somatic p.T771R KDR (VEGFR2) Mutation Arising in a Sporadic Angioma During Ramucirumab Therapy.

Lim YH, Odell ID, Ko CJ, Choate KA.

JAMA Dermatol. 2015 Nov;151(11):1240-3. doi: 10.1001/jamadermatol.2015.1925.

PubMed [citation]
PMID:
26422291

Details of each submission

From Yale Center for Mendelian Genomics, Yale University - Yale Center for Mendelian Genomics, SCV002106524.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 15, 2024