NM_032119.4(ADGRV1):c.16285G>A (p.Glu5429Lys) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Dec 11, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000150787.4

Allele description [Variation Report for NM_032119.4(ADGRV1):c.16285G>A (p.Glu5429Lys)]

NM_032119.4(ADGRV1):c.16285G>A (p.Glu5429Lys)

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.16285G>A (p.Glu5429Lys)
HGVS:
  • NC_000005.10:g.90823513G>A
  • NG_007083.2:g.299170G>A
  • NM_032119.4:c.16285G>AMANE SELECT
  • NP_115495.3:p.Glu5429Lys
  • LRG_1095t1:c.16285G>A
  • LRG_1095:g.299170G>A
  • LRG_1095p1:p.Glu5429Lys
  • NC_000005.9:g.90119330G>A
  • NM_032119.3:c.16285G>A
  • NR_003149.2:n.16301G>A
Protein change:
E5429K
Links:
dbSNP: rs183851734
NCBI 1000 Genomes Browser:
rs183851734
Molecular consequence:
  • NM_032119.4:c.16285G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_003149.2:n.16301G>A - 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
SCV000198295Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Dec 11, 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, SCV000198295.4

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

Description

Variant classified as Uncertain Significance - Favor Benign. The p.Glu5429Lys va riant in ADGRV1 has been previously reported in 2 individuals with hearing loss by our laboratory; however, a variant affecting the remaining copy of ADGRV1 was not identified. This variant was identified in 0.24% (58/24022) of African chro mosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute .org; dbSNP rs183851734). Although this variant has been seen in the general pop ulation, its frequency is not high enough to rule out a pathogenic role. Computa tional prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, while the clinical signific ance of the p.Glu5429Lys variant is uncertain, its frequency in the general popu lation suggests that it is more likely to be benign. ACMG/AMP Criteria applied: BS1_Supporting.

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

Last Updated: Aug 27, 2021

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