NM_032119.4(ADGRV1):c.8396C>T (p.Pro2799Leu) AND not specified

Clinical significance:Likely benign (Last evaluated: Jan 19, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000039644.3

Allele description [Variation Report for NM_032119.4(ADGRV1):c.8396C>T (p.Pro2799Leu)]

NM_032119.4(ADGRV1):c.8396C>T (p.Pro2799Leu)

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.8396C>T (p.Pro2799Leu)
HGVS:
  • NC_000005.10:g.90705409C>T
  • NG_007083.2:g.181066C>T
  • NM_032119.4:c.8396C>TMANE SELECT
  • NP_115495.3:p.Pro2799Leu
  • LRG_1095t1:c.8396C>T
  • LRG_1095:g.181066C>T
  • LRG_1095p1:p.Pro2799Leu
  • NC_000005.9:g.90001226C>T
  • NM_032119.3:c.8396C>T
  • NR_003149.2:n.8412C>T
  • c.8396C>T
Protein change:
P2799L
Links:
dbSNP: rs200179979
NCBI 1000 Genomes Browser:
rs200179979
Molecular consequence:
  • NM_032119.4:c.8396C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_003149.2:n.8412C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
3

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
SCV000063333Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Jan 19, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided33not 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, SCV000063333.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)

Description

p.Pro2799Leu in exon 37 of GPR98: This variant is not expected to have clinical significance due to a lack of conservation across mammals and computational anal yses do not suggest a high likelihood of impact to the protein. It has been id entified in 21/66654 of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs200179979).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided3not provided3not provided

Last Updated: Jul 7, 2021

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