NM_032119.4(ADGRV1):c.16999A>G (p.Met5667Val) AND not specified

Clinical significance:Likely benign (Last evaluated: Feb 13, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000825096.1

Allele description [Variation Report for NM_032119.4(ADGRV1):c.16999A>G (p.Met5667Val)]

NM_032119.4(ADGRV1):c.16999A>G (p.Met5667Val)

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.16999A>G (p.Met5667Val)
HGVS:
  • NC_000005.10:g.90840965A>G
  • NG_007083.2:g.316622A>G
  • NM_032119.4:c.16999A>GMANE SELECT
  • NP_115495.3:p.Met5667Val
  • LRG_1095t1:c.16999A>G
  • LRG_1095:g.316622A>G
  • LRG_1095p1:p.Met5667Val
  • NC_000005.9:g.90136782A>G
  • NM_032119.3:c.16999A>G
  • NR_003149.2:n.17015A>G
  • p.Met5667Val
Protein change:
M5667V
Links:
dbSNP: rs201767389
NCBI 1000 Genomes Browser:
rs201767389
Molecular consequence:
  • NM_032119.4:c.16999A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_003149.2:n.17015A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
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
SCV000966350Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Feb 13, 2018)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not 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, SCV000966350.1

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

Description

p.Met5667Val in exon 78 of ADGRV1: This variant is not expected to have clinical significance due to a lack of conservation across species. Of note, over 30 mam mals, including one primate, have a valine at this position despite high nearby amino acid conservation. In addition, computational prediction tools do not sugg est a high likelihood of impact to the protein. This variant has been identified in 12/95060 European chromosomes by the Genome Aggregation Database (gnomAD, ht tp://gnomad.broadinstitute.org; dbSNP rs201767389). ACMG/AMP Criteria applied: B P4_Strong (Richards 2015).

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

Last Updated: Nov 27, 2021

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