NM_015404.4(WHRN):c.1455G>A (p.Pro485=) AND Usher syndrome, type 2D

Clinical significance:Uncertain significance (Last evaluated: Aug 14, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001168768.1

Allele description [Variation Report for NM_015404.4(WHRN):c.1455G>A (p.Pro485=)]

NM_015404.4(WHRN):c.1455G>A (p.Pro485=)

Gene:
WHRN:whirlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q32
Genomic location:
Preferred name:
NM_015404.4(WHRN):c.1455G>A (p.Pro485=)
HGVS:
  • NC_000009.12:g.114423485C>T
  • NG_016700.1:g.86972G>A
  • NM_001083885.2:c.306G>A
  • NM_001173425.2:c.1455G>A
  • NM_001346890.1:c.402G>A
  • NM_015404.4:c.1455G>AMANE SELECT
  • NP_001077354.2:p.Pro102=
  • NP_001166896.1:p.Pro485=
  • NP_001333819.1:p.Pro134=
  • NP_056219.3:p.Pro485=
  • LRG_1094t1:c.1455G>A
  • LRG_1094:g.86972G>A
  • LRG_1094p1:p.Pro485=
  • NC_000009.11:g.117185765C>T
  • NM_015404.2:c.1455G>A
  • NM_015404.3:c.1455G>A
Links:
dbSNP: rs141807746
NCBI 1000 Genomes Browser:
rs141807746
Molecular consequence:
  • NM_001083885.2:c.306G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001173425.2:c.1455G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001346890.1:c.402G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_015404.4:c.1455G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Usher syndrome, type 2D (USH2D)
Synonyms:
USHER SYNDROME, TYPE IID; Usher Syndrome, Type II
Identifiers:
MONDO: MONDO:0012662; MedGen: C1568249; Orphanet: 231178; Orphanet: 886; OMIM: 611383

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001331382Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Aug 14, 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

Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin.

Aller E, Jaijo T, van Wijk E, Ebermann I, Kersten F, García-García G, Voesenek K, Aparisi MJ, Hoefsloot L, Cremers C, Díaz-Llopis M, Pennings R, Bolz HJ, Kremer H, Millán JM.

Mol Vis. 2010 Mar 23;16:495-500.

PubMed [citation]
PMID:
20352026
PMCID:
PMC2845667

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001331382.1

#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: Sep 18, 2021

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