NM_032119.4(ADGRV1):c.15786C>T (p.Phe5262=) AND not specified

Clinical significance:Benign (Last evaluated: Jun 8, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000039537.5

Allele description [Variation Report for NM_032119.4(ADGRV1):c.15786C>T (p.Phe5262=)]

NM_032119.4(ADGRV1):c.15786C>T (p.Phe5262=)

Gene:
ADGRV1:adhesion G protein-coupled receptor V1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q14.3
Genomic location:
Preferred name:
NM_032119.4(ADGRV1):c.15786C>T (p.Phe5262=)
HGVS:
  • NC_000005.10:g.90811046C>T
  • NG_007083.2:g.286703C>T
  • NM_032119.4:c.15786C>TMANE SELECT
  • NP_115495.3:p.Phe5262=
  • LRG_1095t1:c.15786C>T
  • LRG_1095:g.286703C>T
  • LRG_1095p1:p.Phe5262=
  • NC_000005.9:g.90106863C>T
  • NM_032119.3:c.15786C>T
  • NR_003149.2:n.15802C>T
  • c.15786C>T
  • p.Phe5262Phe
Links:
dbSNP: rs369083434
NCBI 1000 Genomes Browser:
rs369083434
Molecular consequence:
  • NR_003149.2:n.15802C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_032119.4:c.15786C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
5

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000063226Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(Jun 8, 2015)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided55not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000063226.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided5not providednot providedclinical testing PubMed (1)

Description

Phe5262Phe in Exon 74 of GPR98: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.5% (47/9728) of Af rican chromosomes, including 1 homozygote, by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs369083434).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided5not provided5not provided

Last Updated: Sep 6, 2021

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