NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu) AND not specified

Clinical significance:Benign (Last evaluated: Oct 31, 2014)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000039544.4

Allele description [Variation Report for NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu)]

NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu)

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.17017A>G (p.Lys5673Glu)
HGVS:
  • NC_000005.10:g.90840983A>G
  • NG_007083.2:g.316640A>G
  • NM_032119.4:c.17017A>GMANE SELECT
  • NP_115495.3:p.Lys5673Glu
  • LRG_1095t1:c.17017A>G
  • LRG_1095:g.316640A>G
  • LRG_1095p1:p.Lys5673Glu
  • NC_000005.9:g.90136800A>G
  • NM_032119.3:c.17017A>G
  • NR_003149.2:n.17033A>G
  • c.17017A>G
Protein change:
K5673E
Links:
dbSNP: rs41303350
NCBI 1000 Genomes Browser:
rs41303350
Molecular consequence:
  • NM_032119.4:c.17017A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_003149.2:n.17033A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
6

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
SCV000063233Laboratory 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]

SCV000232449EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Oct 31, 2014)
germlineclinical testing

Citation Link,

SCV001922649Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedBenigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot provided66not 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, SCV000063233.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided6not providednot providedclinical testing PubMed (1)

Description

Lys5673Glu in Exon 78 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 0.4% (25/6622) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs41303350).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided6not provided6not provided

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000232449.5

#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, SCV001922649.1

#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

Support Center