NM_032119.4(ADGRV1):c.4864T>C (p.Tyr1622His) AND not specified

Clinical significance:Benign (Last evaluated: Apr 30, 2012)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000220203.1

Allele description [Variation Report for NM_032119.4(ADGRV1):c.4864T>C (p.Tyr1622His)]

NM_032119.4(ADGRV1):c.4864T>C (p.Tyr1622His)

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.4864T>C (p.Tyr1622His)
HGVS:
  • NC_000005.10:g.90672657T>C
  • NG_007083.2:g.148314T>C
  • NM_032119.4:c.4864T>CMANE SELECT
  • NP_115495.3:p.Tyr1622His
  • LRG_1095t1:c.4864T>C
  • LRG_1095:g.148314T>C
  • LRG_1095p1:p.Tyr1622His
  • NC_000005.9:g.89968474T>C
  • NM_032119.3:c.4864T>C
  • NR_003149.2:n.4963T>C
Protein change:
Y1622H
Links:
dbSNP: rs111753827
NCBI 1000 Genomes Browser:
rs111753827
Molecular consequence:
  • NM_032119.4:c.4864T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_003149.2:n.4963T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
4

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
SCV000269137Laboratory 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]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided44not 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, SCV000269137.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testing PubMed (1)

Description

Tyr1622His in Exon 22 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 1.2% (38/3086) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs111753827).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided4not provided4not provided

Last Updated: Jul 7, 2021

Support Center