NM_000551.3(VHL):c.631A>C (p.Met211Leu) AND Hereditary cancer-predisposing syndrome

Clinical significance:Likely benign (Last evaluated: Nov 14, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001025130.1

Allele description [Variation Report for NM_000551.3(VHL):c.631A>C (p.Met211Leu)]

NM_000551.3(VHL):c.631A>C (p.Met211Leu)

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.631A>C (p.Met211Leu)
Other names:
p.M211L:ATG>CTG
HGVS:
  • NC_000003.12:g.10149954A>C
  • NG_008212.3:g.13320A>C
  • NG_046756.1:g.7716A>C
  • NM_000551.3:c.631A>C
  • NM_001354723.2:c.*185A>C
  • NM_198156.3:c.508A>C
  • NP_000542.1:p.Met211Leu
  • NP_937799.1:p.Met170Leu
  • LRG_322t1:c.631A>C
  • LRG_322:g.13320A>C
  • LRG_322p1:p.Met211Leu
  • NC_000003.11:g.10191638A>C
Protein change:
M170L
Links:
dbSNP: rs200019083
NCBI 1000 Genomes Browser:
rs200019083
Molecular consequence:
  • NM_001354723.2:c.*185A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000551.3:c.631A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198156.3:c.508A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV001187262Ambry Geneticscriteria provided, single submitter
Likely benign
(Nov 14, 2018)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Next-generation sequencing in familial breast cancer patients from Lebanon.

Jalkh N, Chouery E, Haidar Z, Khater C, Atallah D, Ali H, Marafie MJ, Al-Mulla MR, Al-Mulla F, Megarbane A.

BMC Med Genomics. 2017 Feb 15;10(1):8. doi: 10.1186/s12920-017-0244-7.

PubMed [citation]
PMID:
28202063
PMCID:
PMC5312584

Details of each submission

From Ambry Genetics, SCV001187262.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

In silico models in agreement (benign);Subpopulation frequency in support of benign classification

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 9, 2021

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