NM_032119.4(ADGRV1):c.463A>G (p.Ile155Val) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: May 26, 2016)

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:
RCV000039586.4

Allele description [Variation Report for NM_032119.4(ADGRV1):c.463A>G (p.Ile155Val)]

NM_032119.4(ADGRV1):c.463A>G (p.Ile155Val)

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.463A>G (p.Ile155Val)
HGVS:
  • NC_000005.10:g.90622606A>G
  • NG_007083.2:g.98263A>G
  • NM_032119.4:c.463A>GMANE SELECT
  • NP_115495.3:p.Ile155Val
  • LRG_1095t1:c.463A>G
  • LRG_1095:g.98263A>G
  • LRG_1095p1:p.Ile155Val
  • NC_000005.9:g.89918423A>G
  • NM_032119.3:c.463A>G
  • NR_003149.2:n.562A>G
  • c.463A>G
Protein change:
I155V
Links:
dbSNP: rs199873924
NCBI 1000 Genomes Browser:
rs199873924
Molecular consequence:
  • NM_032119.4:c.463A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_003149.2:n.562A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
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
SCV000063275Laboratory 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]

SCV000341006EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely benign
(May 26, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided55not providednot providednot providedclinical testing
not providedgermlineunknown2not 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, SCV000063275.5

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

Description

Ile155Val in Exon 05 of GPR98: This variant is not expected to have clinical sig nificance because it has been identified in 0.7% (23/3260) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS).

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

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000341006.4

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

Last Updated: Sep 29, 2021

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