NM_032119.4(ADGRV1):c.6443C>T (p.Ala2148Val) AND not specified

Clinical significance:Likely benign (Last evaluated: Feb 19, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000039609.4

Allele description [Variation Report for NM_032119.4(ADGRV1):c.6443C>T (p.Ala2148Val)]

NM_032119.4(ADGRV1):c.6443C>T (p.Ala2148Val)

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.6443C>T (p.Ala2148Val)
HGVS:
  • NC_000005.10:g.90685948C>T
  • NG_007083.2:g.161605C>T
  • NM_032119.4:c.6443C>TMANE SELECT
  • NP_115495.3:p.Ala2148Val
  • LRG_1095t1:c.6443C>T
  • LRG_1095:g.161605C>T
  • LRG_1095p1:p.Ala2148Val
  • NC_000005.9:g.89981765C>T
  • NM_032119.3:c.6443C>T
  • NR_003149.2:n.6542C>T
  • c.6443C>T
Protein change:
A2148V
Links:
dbSNP: rs375921325
NCBI 1000 Genomes Browser:
rs375921325
Molecular consequence:
  • NM_032119.4:c.6443C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_003149.2:n.6542C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
2

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
SCV000063298Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Feb 19, 2013)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided22not 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, SCV000063298.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

Ala2148Val in exon 29 of GPR98: This variant is not expected to have clinical si gnificance because it is has been identified in 3/3124 (0.09%) African American chromosomes from a broad population by the NHLBI Exome sequencing project (http: //evs.gs.washington.edu/EVS/) and due to a lack of conservation across species, including mammals. Of note, possum has a valine (Val) at this position despite h igh nearby amino acid conservation. In addition, this variant has now been ident ified in our laboratory in two individuals, neither of whom had a second GPR98 v ariant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided2not provided

Last Updated: Jul 7, 2021

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