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NM_000551.4(VHL):c.628C>T (p.Arg210Trp) AND Maffucci syndrome

Germline classification:
Likely pathogenic (1 submission)
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:
RCV002467673.1

Allele description [Variation Report for NM_000551.4(VHL):c.628C>T (p.Arg210Trp)]

NM_000551.4(VHL):c.628C>T (p.Arg210Trp)

Genes:
LOC107303340:3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region [Gene]
VHL:von Hippel-Lindau tumor suppressor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_000551.4(VHL):c.628C>T (p.Arg210Trp)
HGVS:
  • NC_000003.12:g.10149951C>T
  • NG_008212.3:g.13317C>T
  • NG_046756.1:g.7713C>T
  • NM_000551.4:c.628C>TMANE SELECT
  • NM_001354723.2:c.*182C>T
  • NM_198156.3:c.505C>T
  • NP_000542.1:p.Arg210Trp
  • NP_000542.1:p.Arg210Trp
  • NP_937799.1:p.Arg169Trp
  • LRG_322t1:c.628C>T
  • LRG_322:g.13317C>T
  • LRG_322p1:p.Arg210Trp
  • NC_000003.11:g.10191635C>T
  • NM_000551.3:c.628C>T
Protein change:
R169W
Links:
dbSNP: rs774380450
NCBI 1000 Genomes Browser:
rs774380450
Molecular consequence:
  • NM_001354723.2:c.*182C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000551.4:c.628C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198156.3:c.505C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Maffucci syndrome
Synonyms:
MULTIPLE ENCHONDROMATOSIS, MAFFUCCI TYPE; Dyschondrodysplasia with Hemangiomas; Enchondromatosis with Multiple Cavernous Hemangiomas; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0013808; MedGen: C0024454; Orphanet: 163634; OMIM: 614569

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002764245Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenicunknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedresearch

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 Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine, SCV002764245.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024