NM_032119.4(ADGRV1):c.6095C>T (p.Ala2032Val) AND not specified

Clinical significance:Benign (Last evaluated: Apr 25, 2014)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000039603.5

Allele description [Variation Report for NM_032119.4(ADGRV1):c.6095C>T (p.Ala2032Val)]

NM_032119.4(ADGRV1):c.6095C>T (p.Ala2032Val)

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.6095C>T (p.Ala2032Val)
HGVS:
  • NC_000005.10:g.90684016C>T
  • NG_007083.2:g.159673C>T
  • NM_032119.4:c.6095C>TMANE SELECT
  • NP_115495.3:p.Ala2032Val
  • LRG_1095t1:c.6095C>T
  • LRG_1095:g.159673C>T
  • LRG_1095p1:p.Ala2032Val
  • NC_000005.9:g.89979833C>T
  • NM_032119.3:c.6095C>T
  • NR_003149.2:n.6194C>T
  • c.6095C>T
Protein change:
A2032V
Links:
dbSNP: rs142013761
NCBI 1000 Genomes Browser:
rs142013761
Molecular consequence:
  • NM_032119.4:c.6095C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_003149.2:n.6194C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
3

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000063292Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(Apr 30, 2012)
germlineclinical testing

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

SCV000202822EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Apr 25, 2014)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided33not providednot providednot providedclinical testing
not providedgermlineunknown1not providednot 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, SCV000063292.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)

Description

Ala2032Val in Exon 28 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 0.9% (27/2988) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs142013761).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided3not provided3not provided

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000202822.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 18, 2021

Support Center