NM_032119.4(ADGRV1):c.17512G>A (p.Val5838Ile) AND not specified

Clinical significance:Likely benign (Last evaluated: Jan 28, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000156298.1

Allele description [Variation Report for NM_032119.4(ADGRV1):c.17512G>A (p.Val5838Ile)]

NM_032119.4(ADGRV1):c.17512G>A (p.Val5838Ile)

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.17512G>A (p.Val5838Ile)
HGVS:
  • NC_000005.10:g.90854119G>A
  • NG_007083.2:g.329776G>A
  • NM_032119.4:c.17512G>AMANE SELECT
  • NP_115495.3:p.Val5838Ile
  • LRG_1095t1:c.17512G>A
  • LRG_1095:g.329776G>A
  • LRG_1095p1:p.Val5838Ile
  • NC_000005.9:g.90149936G>A
  • NM_032119.3:c.17512G>A
  • NR_003149.2:n.17528G>A
Protein change:
V5838I
Links:
dbSNP: rs727504913
NCBI 1000 Genomes Browser:
rs727504913
Molecular consequence:
  • NM_032119.4:c.17512G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_003149.2:n.17528G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

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
SCV000206016Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Jan 28, 2014)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not 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, SCV000206016.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Val5838Ile in exon 81 of GPR98: This variant is not expected to have clinical si gnificance because the valine (Val) residue at position 5838 is not conserved ac ross species with several mammals (including primates) having an isoleucine (Ile ).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Jul 7, 2021

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