U.S. flag

An official website of the United States government

NM_015404.4(WHRN):c.1455G>A (p.Pro485=) AND Autosomal recessive nonsyndromic hearing loss 31

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 14, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001168769.4

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_001083885.3: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_001083885.3: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:
Autosomal recessive nonsyndromic hearing loss 31
Synonyms:
WHIRLER, MOUSE, HOMOLOG OF; Deafness, autosomal recessive 31
Identifiers:
MONDO: MONDO:0011767; MedGen: C1846839; Orphanet: 90636; OMIM: 607084

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001331383Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Uncertain significance
(Aug 14, 2017) 		germlineclinical testing

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

Citation Link

Help

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 Laboratory Services, Illumina, SCV001331383.1

#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: Feb 20, 2024