NM_000441.2(SLC26A4):c.439A>G (p.Met147Val) AND not provided

Clinical significance:Pathogenic (Last evaluated: Mar 8, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001389158.1

Allele description [Variation Report for NM_000441.2(SLC26A4):c.439A>G (p.Met147Val)]

NM_000441.2(SLC26A4):c.439A>G (p.Met147Val)

Gene:
SLC26A4:solute carrier family 26 member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q22.3
Genomic location:
Preferred name:
NM_000441.2(SLC26A4):c.439A>G (p.Met147Val)
HGVS:
  • NC_000007.14:g.107674187A>G
  • NG_008489.1:g.18553A>G
  • NM_000441.2:c.439A>GMANE SELECT
  • NP_000432.1:p.Met147Val
  • NC_000007.13:g.107314632A>G
  • NM_000441.1:c.439A>G
  • p.Met147Val
Protein change:
M147V
Links:
dbSNP: rs760413427
NCBI 1000 Genomes Browser:
rs760413427
Molecular consequence:
  • NM_000441.2:c.439A>G - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
loss_of_function_variant [Sequence Ontology: SO:0002054]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001590424Invitaecriteria provided, single submitter
Pathogenic
(Mar 8, 2020)
germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans.

Park HJ, Lee SJ, Jin HS, Lee JO, Go SH, Jang HS, Moon SK, Lee SC, Chun YM, Lee HK, Choi JY, Jung SC, Griffith AJ, Koo SK.

Clin Genet. 2005 Feb;67(2):160-5.

PubMed [citation]
PMID:
15679828

Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct.

Huang S, Han D, Yuan Y, Wang G, Kang D, Zhang X, Yan X, Meng X, Dong M, Dai P.

J Transl Med. 2011 Sep 30;9:167. doi: 10.1186/1479-5876-9-167.

PubMed [citation]
PMID:
21961810
PMCID:
PMC3204245
See all PubMed Citations (6)

Details of each submission

From Invitae, SCV001590424.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

This sequence change replaces methionine with valine at codon 147 of the SLC26A4 protein (p.Met147Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs760413427, ExAC 0.01%). This variant has been observed in individual(s) with SLC26A4-related conditions (PMID: 15679828, 21961810, 14508505). This variant has been reported to affect SLC26A4 protein function (PMID: 20826203, 18310264). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2021

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