NM_032119.4(ADGRV1):c.9366A>G (p.Thr3122=) AND Usher syndrome, type 2C

Clinical significance:Benign (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001157219.1

Allele description [Variation Report for NM_032119.4(ADGRV1):c.9366A>G (p.Thr3122=)]

NM_032119.4(ADGRV1):c.9366A>G (p.Thr3122=)

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.9366A>G (p.Thr3122=)
HGVS:
  • NC_000005.10:g.90716648A>G
  • NG_007083.2:g.192305A>G
  • NM_032119.4:c.9366A>GMANE SELECT
  • NP_115495.3:p.Thr3122=
  • LRG_1095t1:c.9366A>G
  • LRG_1095:g.192305A>G
  • LRG_1095p1:p.Thr3122=
  • NC_000005.9:g.90012465A>G
  • NM_032119.3:c.9366A>G
  • NR_003149.2:n.9382A>G
  • p.Thr3122Thr
Links:
dbSNP: rs200412477
NCBI 1000 Genomes Browser:
rs200412477
Molecular consequence:
  • NR_003149.2:n.9382A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_032119.4:c.9366A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Usher syndrome, type 2C (USH2C)
Synonyms:
USHER SYNDROME, TYPE IIC; Usher syndrome, type 2B
Identifiers:
MONDO: MONDO:0011558; MedGen: C2931213; Orphanet: 231178; Orphanet: 886; OMIM: 605472

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001318770Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Benign
(Apr 27, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Experience of targeted Usher exome sequencing as a clinical test.

Besnard T, García-García G, Baux D, Vaché C, Faugère V, Larrieu L, Léonard S, Millan JM, Malcolm S, Claustres M, Roux AF.

Mol Genet Genomic Med. 2014 Jan;2(1):30-43. doi: 10.1002/mgg3.25. Epub 2013 Jul 10.

PubMed [citation]
PMID:
24498627
PMCID:
PMC3907913

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001318770.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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

Last Updated: Nov 27, 2021

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