U.S. flag

An official website of the United States government

NM_000551.4(VHL):c.538A>G (p.Ile180Val) AND Enchondromatosis

Germline classification:
no classifications from unflagged records (1 submission)
Last evaluated:
Dec 7, 2023
Review status:
no classifications from unflagged records
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:
RCV002467588.2

Allele description [Variation Report for NM_000551.4(VHL):c.538A>G (p.Ile180Val)]

NM_000551.4(VHL):c.538A>G (p.Ile180Val)

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.538A>G (p.Ile180Val)
HGVS:
  • NC_000003.12:g.10149861A>G
  • NG_008212.3:g.13227A>G
  • NG_046756.1:g.7623A>G
  • NM_000551.4:c.538A>GMANE SELECT
  • NM_001354723.2:c.*92A>G
  • NM_198156.3:c.415A>G
  • NP_000542.1:p.Ile180Val
  • NP_000542.1:p.Ile180Val
  • NP_937799.1:p.Ile139Val
  • LRG_322t1:c.538A>G
  • LRG_322:g.13227A>G
  • LRG_322p1:p.Ile180Val
  • NC_000003.11:g.10191545A>G
  • NM_000551.3:c.538A>G
  • P40337:p.Ile180Val
Protein change:
I139V
Links:
UniProtKB: P40337#VAR_005770; dbSNP: rs377715747
NCBI 1000 Genomes Browser:
rs377715747
Molecular consequence:
  • NM_001354723.2:c.*92A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000551.4:c.538A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198156.3:c.415A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Enchondromatosis
Synonyms:
ENCHONDROMATOSIS, MULTIPLE, OLLIER TYPE; Ollier disease; Dyschondroplasia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008145; MedGen: C0014084; Orphanet: 296; OMIM: 166000; Human Phenotype Ontology: HP:0005701

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
No clinical assertions found. See "Flagged submissions" below.
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, SCV002764244.1

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

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002764244Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine
flagged submission
Reason: Outlier claim with insufficient supporting evidence
Notes: None

(ACMG Guidelines, 2015)		Likely pathogenicunknownresearch

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

Last Updated: Nov 3, 2024