NM_032119.4(ADGRV1):c.3974C>T (p.Thr1325Met) AND Usher syndrome, type 2C

Clinical significance:Uncertain significance (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:
RCV001155124.1

Allele description [Variation Report for NM_032119.4(ADGRV1):c.3974C>T (p.Thr1325Met)]

NM_032119.4(ADGRV1):c.3974C>T (p.Thr1325Met)

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.3974C>T (p.Thr1325Met)
HGVS:
  • NC_000005.10:g.90653548C>T
  • NG_007083.2:g.129205C>T
  • NM_032119.4:c.3974C>TMANE SELECT
  • NP_115495.3:p.Thr1325Met
  • LRG_1095t1:c.3974C>T
  • LRG_1095:g.129205C>T
  • LRG_1095p1:p.Thr1325Met
  • NC_000005.9:g.89949365C>T
  • NM_032119.3:c.3974C>T
  • NR_003149.2:n.4073C>T
Protein change:
T1325M
Links:
dbSNP: rs756414393
NCBI 1000 Genomes Browser:
rs756414393
Molecular consequence:
  • NM_032119.4:c.3974C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_003149.2:n.4073C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001316533Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(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

Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.

Krawitz PM, Schiska D, Kr├╝ger U, Appelt S, Heinrich V, Parkhomchuk D, Timmermann B, Millan JM, Robinson PN, Mundlos S, Hecht J, Gross M.

Mol Genet Genomic Med. 2014 Sep;2(5):393-401. doi: 10.1002/mgg3.92. Epub 2014 Jun 15.

PubMed [citation]
PMID:
25333064
PMCID:
PMC4190874

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001316533.1

#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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Oct 30, 2021

Support Center