NM_032119.4(ADGRV1):c.14223C>T (p.Ala4741=) AND not specified

Clinical significance:Likely benign (Last evaluated: May 29, 2018)

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:
RCV000733205.2

Allele description [Variation Report for NM_032119.4(ADGRV1):c.14223C>T (p.Ala4741=)]

NM_032119.4(ADGRV1):c.14223C>T (p.Ala4741=)

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.14223C>T (p.Ala4741=)
HGVS:
  • NC_000005.10:g.90791052C>T
  • NG_007083.2:g.266709C>T
  • NM_032119.4:c.14223C>TMANE SELECT
  • NP_115495.3:p.Ala4741=
  • LRG_1095t1:c.14223C>T
  • LRG_1095:g.266709C>T
  • LRG_1095p1:p.Ala4741=
  • NC_000005.9:g.90086869C>T
  • NM_032119.3:c.14223C>T
  • NR_003149.2:n.14239C>T
Links:
dbSNP: rs61999270
NCBI 1000 Genomes Browser:
rs61999270
Molecular consequence:
  • NR_003149.2:n.14239C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_032119.4:c.14223C>T - synonymous variant - [Sequence Ontology: SO:0001819]
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
SCV000861241EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely benign
(May 29, 2018)
germlineclinical testing

Citation Link,

SCV001365486Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Apr 30, 2012)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown21not 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 EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000861241.1

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

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV001365486.1

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

Description

Ala4741Ala in Exon 70 of GPR98: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.3% (10/3144) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs61999270).

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

Last Updated: Sep 24, 2021

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