NM_000551.3(VHL):c.373C>T (p.His125Tyr) AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: Aug 1, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000708764.1

Allele description [Variation Report for NM_000551.3(VHL):c.373C>T (p.His125Tyr)]

NM_000551.3(VHL):c.373C>T (p.His125Tyr)

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_000551.3(VHL):c.373C>T (p.His125Tyr)
HGVS:
  • NC_000003.12:g.10146546C>T
  • NG_008212.3:g.9912C>T
  • NG_046756.1:g.4308C>T
  • NM_000551.3:c.373C>T
  • NM_001354723.2:c.18-3241C>T
  • NM_198156.3:c.341-3241C>T
  • NP_000542.1:p.His125Tyr
  • LRG_322t1:c.373C>T
  • LRG_322:g.9912C>T
  • LRG_322p1:p.His125Tyr
  • NC_000003.11:g.10188230C>T
Protein change:
H125Y
Links:
dbSNP: rs375401722
NCBI 1000 Genomes Browser:
rs375401722
Molecular consequence:
  • NM_001354723.2:c.18-3241C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_198156.3:c.341-3241C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000551.3:c.373C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000822211GeneKor MSAcriteria provided, single submitter
Uncertain significance
(Aug 1, 2018)
germlineclinical testing

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

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 GeneKor MSA, SCV000822211.1

#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 6, 2021

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