NM_000551.4(VHL):c.531A>G (p.Arg177=) AND multiple conditions

Clinical significance:Likely benign (Last evaluated: Jul 12, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000945927.3

Allele description [Variation Report for NM_000551.4(VHL):c.531A>G (p.Arg177=)]

NM_000551.4(VHL):c.531A>G (p.Arg177=)

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.531A>G (p.Arg177=)
HGVS:
  • NC_000003.12:g.10149854A>G
  • NG_008212.3:g.13220A>G
  • NG_046756.1:g.7616A>G
  • NM_000551.4:c.531A>GMANE SELECT
  • NM_001354723.2:c.*85A>G
  • NM_198156.3:c.408A>G
  • NP_000542.1:p.Arg177=
  • NP_937799.1:p.Arg136=
  • LRG_322t1:c.531A>G
  • LRG_322:g.13220A>G
  • NC_000003.11:g.10191538A>G
  • NM_000551.3:c.531A>G
Links:
dbSNP: rs766088261
NCBI 1000 Genomes Browser:
rs766088261
Molecular consequence:
  • NM_001354723.2:c.*85A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000551.4:c.531A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_198156.3:c.408A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Erythrocytosis, familial, 2 (ECYT2)
Synonyms:
POLYCYTHEMIA, CHUVASH TYPE; POLYCYTHEMIA, VHL-DEPENDENT
Identifiers:
MONDO: MONDO:0009892; MedGen: C1837915; Orphanet: 238557; OMIM: 263400
Name:
Von Hippel-Lindau syndrome (VHLS)
Synonyms:
VHL syndrome; Von Hippel-Lindau
Identifiers:
MONDO: MONDO:0008667; MedGen: C0019562; Orphanet: 892; OMIM: 193300

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001092002Invitaecriteria provided, single submitter
Likely benign
(Jul 12, 2020)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001092002.3

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

Last Updated: May 16, 2021

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