U.S. flag

An official website of the United States government

NM_000551.4(VHL):c.28G>C (p.Glu10Gln) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 11, 2022
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:
RCV002438799.2

Allele description [Variation Report for NM_000551.4(VHL):c.28G>C (p.Glu10Gln)]

NM_000551.4(VHL):c.28G>C (p.Glu10Gln)

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.28G>C (p.Glu10Gln)
HGVS:
  • NC_000003.12:g.10141875G>C
  • NG_008212.3:g.5241G>C
  • NM_000551.4:c.28G>CMANE SELECT
  • NM_001354723.2:c.28G>C
  • NM_198156.3:c.28G>C
  • NP_000542.1:p.Glu10Gln
  • NP_001341652.1:p.Glu10Gln
  • NP_937799.1:p.Glu10Gln
  • LRG_322t1:c.28G>C
  • LRG_322:g.5241G>C
  • NC_000003.11:g.10183559G>C
  • NM_000551.3:c.28G>C
Protein change:
E10Q
Links:
dbSNP: rs1057519261
NCBI 1000 Genomes Browser:
rs1057519261
Molecular consequence:
  • NM_000551.4:c.28G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354723.2:c.28G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198156.3:c.28G>C - 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; MeSH: D009386; MedGen: C0027672

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
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002752349Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 11, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002752349.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.E10Q variant (also known as c.28G>C), located in coding exon 1 of the VHL gene, results from a G to C substitution at nucleotide position 28. The glutamic acid at codon 10 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024