NM_032119.4(ADGRV1):c.7284T>C (p.Asn2428=) AND not specified

Clinical significance:Benign (Last evaluated: Jun 13, 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:
RCV000039623.3

Allele description [Variation Report for NM_032119.4(ADGRV1):c.7284T>C (p.Asn2428=)]

NM_032119.4(ADGRV1):c.7284T>C (p.Asn2428=)

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.7284T>C (p.Asn2428=)
HGVS:
  • NC_000005.10:g.90694040T>C
  • NG_007083.2:g.169697T>C
  • NM_032119.4:c.7284T>CMANE SELECT
  • NP_115495.3:p.Asn2428=
  • LRG_1095t1:c.7284T>C
  • LRG_1095:g.169697T>C
  • LRG_1095p1:p.Asn2428=
  • NC_000005.9:g.89989857T>C
  • NM_032119.3:c.7284T>C
  • NR_003149.2:n.7300T>C
  • c.7284T>C
  • p.Asn2428Asn
Links:
dbSNP: rs148932387
NCBI 1000 Genomes Browser:
rs148932387
Molecular consequence:
  • NR_003149.2:n.7300T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_032119.4:c.7284T>C - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
4

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
SCV000063312Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(May 14, 2012)
germlineclinical testing

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

SCV000342671EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Jun 13, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided44not providednot providednot providedclinical testing
not providedgermlineunknown1not 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, SCV000063312.5

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

Description

Asn2428Asn in Exon 33 of GPR98: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.6% (20/3140) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs148932387).

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

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000342671.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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