NM_032119.4(ADGRV1):c.7176C>T (p.Ser2392=) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Jul 20, 2015)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000039619.8

Allele description [Variation Report for NM_032119.4(ADGRV1):c.7176C>T (p.Ser2392=)]

NM_032119.4(ADGRV1):c.7176C>T (p.Ser2392=)

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.7176C>T (p.Ser2392=)
HGVS:
  • NC_000005.10:g.90693932C>T
  • NG_007083.2:g.169589C>T
  • NM_032119.4:c.7176C>TMANE SELECT
  • NP_115495.3:p.Ser2392=
  • LRG_1095t1:c.7176C>T
  • LRG_1095:g.169589C>T
  • LRG_1095p1:p.Ser2392=
  • NC_000005.9:g.89989749C>T
  • NM_032119.3:c.7176C>T
  • NR_003149.2:n.7192C>T
  • c.7176C>T
  • p.Ser2392Ser
Links:
dbSNP: rs111033452
NCBI 1000 Genomes Browser:
rs111033452
Molecular consequence:
  • NR_003149.2:n.7192C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_032119.4:c.7176C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
21

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
SCV000063308Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(Mar 13, 2012)
germlineclinical testing

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

SCV000193284Genetic Services Laboratory,University of Chicagono assertion criteria providedLikely benigngermlineclinical testing

SCV000332957EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely benign
(Jul 20, 2015)
germlineclinical testing

Citation Link,

SCV001920693Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedBenigngermlineclinical testing

Description

Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed

SCV000193284

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided2121not providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot 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, SCV000063308.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided21not providednot providedclinical testing PubMed (1)

Description

Ser2392Ser in exon 33 of GPR98: }: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wi thin the splice consensus sequence and has been identified in 0.41% (27/6648) of European American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs111033452).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided21not provided21not provided

From Genetic Services Laboratory,University of Chicago, SCV000193284.1

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

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000332957.4

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

From Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus, SCV001920693.1

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

Last Updated: Nov 27, 2021

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