NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr) AND not specified

Clinical significance:Likely benign (Last evaluated: Dec 21, 2017)

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:
RCV000039567.8

Allele description [Variation Report for NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr)]

NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr)

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.3151G>T (p.Asp1051Tyr)
HGVS:
  • NC_000005.10:g.90647626G>T
  • NG_007083.2:g.123283G>T
  • NM_032119.4:c.3151G>TMANE SELECT
  • NP_115495.3:p.Asp1051Tyr
  • LRG_1095t1:c.3151G>T
  • LRG_1095:g.123283G>T
  • LRG_1095p1:p.Asp1051Tyr
  • NC_000005.9:g.89943443G>T
  • NM_032119.3:c.3151G>T
  • NR_003149.2:n.3250G>T
  • c.3151G>T
Protein change:
D1051Y
Links:
dbSNP: rs145556097
NCBI 1000 Genomes Browser:
rs145556097
Molecular consequence:
  • NM_032119.4:c.3151G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_003149.2:n.3250G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
7

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
SCV000063256Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Dec 21, 2017)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV000226683EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely benign
(Sep 22, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided77not providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Next-generation genetic testing for retinitis pigmentosa.

Neveling K, Collin RW, Gilissen C, van Huet RA, Visser L, Kwint MP, Gijsen SJ, Zonneveld MN, Wieskamp N, de Ligt J, Siemiatkowska AM, Hoefsloot LH, Buckley MF, Kellner U, Branham KE, den Hollander AI, Hoischen A, Hoyng C, Klevering BJ, van den Born LI, Veltman JA, Cremers FP, et al.

Hum Mutat. 2012 Jun;33(6):963-72. doi: 10.1002/humu.22045. Epub 2012 Mar 19. Erratum in: Hum Mutat. 2013 Aug;34(8):1181.

PubMed [citation]
PMID:
22334370
PMCID:
PMC3490376

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, SCV000063256.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided7not providednot providedclinical testing PubMed (2)

Description

p.Asp1051Tyr in exon 17 of ADGRV1: This variant is not expected to have clinical significance because it has been identified in 0.29% (369/126480) of European chromosomes and 0.31% (105/34414) of Latino chromosomes including 1 homozygote by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; db SNP rs145556097). ACMG/AMP criteria: BS1.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided7not provided7not provided

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000226683.5

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

Last Updated: Oct 30, 2021

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