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NM_000551.4(VHL):c.86_87delinsTT (p.Gly29Val) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 19, 2023
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:
RCV001018081.4

Allele description [Variation Report for NM_000551.4(VHL):c.86_87delinsTT (p.Gly29Val)]

NM_000551.4(VHL):c.86_87delinsTT (p.Gly29Val)

Gene:
VHL:von Hippel-Lindau tumor suppressor [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_000551.4(VHL):c.86_87delinsTT (p.Gly29Val)
HGVS:
  • NC_000003.12:g.10141933_10141934delinsTT
  • NG_008212.3:g.5299_5300delinsTT
  • NM_000551.3:c.86_87delinsTT
  • NM_000551.4:c.86_87delinsTTMANE SELECT
  • NM_001354723.2:c.86_87delinsTT
  • NM_198156.3:c.86_87delinsTT
  • NP_000542.1:p.Gly29Val
  • NP_001341652.1:p.Gly29Val
  • NP_937799.1:p.Gly29Val
  • LRG_322t1:c.86_87delinsTT
  • LRG_322:g.5299_5300delinsTT
  • NC_000003.11:g.10183617_10183618delinsTT
  • NM_000551.3:c.86_87delGCinsTT
  • NM_000551.4:c.86_87delinsTT
Protein change:
G29V
Links:
dbSNP: rs879254115
NCBI 1000 Genomes Browser:
rs879254115
Molecular consequence:
  • NM_000551.4:c.86_87delinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354723.2:c.86_87delinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198156.3:c.86_87delinsTT - 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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001179265Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Aug 19, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV001179265.5

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

Description

The c.86_87delGCinsTT variant (also known as p.G29V), located in coding exon 1 of the VHL gene, results from an in-frame deletion of GC and insertion of TT at nucleotide positions 86 to 87. This results in the substitution of the glycine residue for a valine residue at codon 29, an amino acid with dissimilar properties. This amino acid position is well conserved on limited sequence alignment. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). 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: Sep 29, 2024