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NM_000551.4(VHL):c.613C>T (p.Arg205Cys) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 25, 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:
RCV002356704.2

Allele description [Variation Report for NM_000551.4(VHL):c.613C>T (p.Arg205Cys)]

NM_000551.4(VHL):c.613C>T (p.Arg205Cys)

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.613C>T (p.Arg205Cys)
HGVS:
  • NC_000003.12:g.10149936C>T
  • NG_008212.3:g.13302C>T
  • NG_046756.1:g.7698C>T
  • NM_000551.4:c.613C>TMANE SELECT
  • NM_001354723.2:c.*167C>T
  • NM_198156.3:c.490C>T
  • NP_000542.1:p.Arg205Cys
  • NP_000542.1:p.Arg205Cys
  • NP_937799.1:p.Arg164Cys
  • LRG_322t1:c.613C>T
  • LRG_322:g.13302C>T
  • LRG_322p1:p.Arg205Cys
  • NC_000003.11:g.10191620C>T
  • NM_000551.3:c.613C>T
Protein change:
R164C
Links:
dbSNP: rs199926195
NCBI 1000 Genomes Browser:
rs199926195
Molecular consequence:
  • NM_001354723.2:c.*167C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000551.4:c.613C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198156.3:c.490C>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; MeSH: D009386; MedGen: C0027672

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV002654444Ambry Genetics
    criteria provided, single submitter

    (Ambry Variant Classification Scheme 2023)    		Likely benign
    (May 25, 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, SCV002654444.2

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

    Description

    This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

    Last Updated: Sep 29, 2024