NM_000551.4(VHL):c.531A>G (p.Arg177=) AND Hereditary cancer-predisposing syndrome

Clinical significance:Likely benign (Last evaluated: Jan 11, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001023914.1

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]
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
SCV001185857Ambry Geneticscriteria provided, single submitter
Likely benign
(Jan 11, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV001185857.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Synonymous alterations with insufficient evidence to classify as benign

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

Last Updated: May 16, 2021

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