NM_032119.4(ADGRV1):c.6608T>C (p.Val2203Ala) AND not specified

Clinical significance:Benign (Last evaluated: Oct 16, 2015)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000039610.5

Allele description [Variation Report for NM_032119.4(ADGRV1):c.6608T>C (p.Val2203Ala)]

NM_032119.4(ADGRV1):c.6608T>C (p.Val2203Ala)

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.6608T>C (p.Val2203Ala)
HGVS:
  • NC_000005.10:g.90689978T>C
  • NG_007083.2:g.165635T>C
  • NM_032119.4:c.6608T>CMANE SELECT
  • NP_115495.3:p.Val2203Ala
  • LRG_1095t1:c.6608T>C
  • LRG_1095:g.165635T>C
  • LRG_1095p1:p.Val2203Ala
  • NC_000005.9:g.89985795T>C
  • NM_032119.3:c.6608T>C
  • NR_003149.2:n.6707T>C
  • c.6608T>C
Protein change:
V2203A
Links:
dbSNP: rs200055351
NCBI 1000 Genomes Browser:
rs200055351
Molecular consequence:
  • NM_032119.4:c.6608T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_003149.2:n.6707T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
14

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
SCV000063299Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(Feb 2, 2015)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV000336108EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Oct 16, 2015)
germlineclinical testing

Citation Link,

SCV001926239Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedBenigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot provided1414not providednot providednot providedclinical testing
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Citations

PubMed

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

Le Quesne Stabej P, Saihan Z, Rangesh N, Steele-Stallard HB, Ambrose J, Coffey A, Emmerson J, Haralambous E, Hughes Y, Steel KP, Luxon LM, Webster AR, Bitner-Glindzicz M.

J Med Genet. 2012 Jan;49(1):27-36. doi: 10.1136/jmedgenet-2011-100468. Epub 2011 Dec 1.

PubMed [citation]
PMID:
22135276
PMCID:
PMC3678402

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, SCV000063299.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided14not providednot providedclinical testing PubMed (2)

Description

Val2203Ala in exon 30 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 1% (121/12344) of South Asian chro mosomes with 2 homozygotes by the Exome Aggregation Consortium (ExAC, http://exa c.broadinstitute.org.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided14not provided14not provided

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000336108.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus, SCV001926239.1

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

Last Updated: Nov 27, 2021

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