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NM_000551.4(VHL):c.345C>G (p.His115Gln) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 5, 2016
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:
RCV000590032.1

Allele description [Variation Report for NM_000551.4(VHL):c.345C>G (p.His115Gln)]

NM_000551.4(VHL):c.345C>G (p.His115Gln)

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.345C>G (p.His115Gln)
HGVS:
  • NC_000003.12:g.10146518C>G
  • NG_008212.3:g.9884C>G
  • NG_046756.1:g.4280C>G
  • NM_000551.4:c.345C>GMANE SELECT
  • NM_001354723.2:c.*18-3269C>G
  • NM_198156.3:c.341-3269C>G
  • NP_000542.1:p.His115Gln
  • NP_000542.1:p.His115Gln
  • LRG_322t1:c.345C>G
  • LRG_322:g.9884C>G
  • LRG_322p1:p.His115Gln
  • NC_000003.11:g.10188202C>G
  • NM_000551.3:c.345C>G
Protein change:
H115Q
Links:
dbSNP: rs864622646
NCBI 1000 Genomes Browser:
rs864622646
Molecular consequence:
  • NM_001354723.2:c.*18-3269C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_198156.3:c.341-3269C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000551.4:c.345C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000697503Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Feb 5, 2016) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Genetic analysis of von Hippel-Lindau disease.

Nordstrom-O'Brien M, van der Luijt RB, van Rooijen E, van den Ouweland AM, Majoor-Krakauer DF, Lolkema MP, van Brussel A, Voest EE, Giles RH.

Hum Mutat. 2010 May;31(5):521-37. doi: 10.1002/humu.21219.

PubMed [citation]
PMID:
20151405

Endocrine pancreatic tumors in von Hippel-Lindau disease: clinical, histological, and genetic features.

Corcos O, Couvelard A, Giraud S, Vullierme MP, Dermot O'Toole, Rebours V, Stievenart JL, Penfornis A, Niccoli-Sire P, Baudin E, Sauvanet A, Levy P, Ruszniewski P, Richard S, Hammel P.

Pancreas. 2008 Jul;37(1):85-93. doi: 10.1097/MPA.0b013e31815f394a.

PubMed [citation]
PMID:
18580449
See all PubMed Citations (5)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000697503.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 5, 2022