NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro) AND Rare genetic deafness

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 5, 2009
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000036429.5

Allele description [Variation Report for NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro)]

NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro)

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.1226G>C (p.Arg409Pro)

HGVS:

NC_000007.14:g.107690200G>C
NG_008489.1:g.34566G>C
NM_000441.2:c.1226G>CMANE SELECT
NP_000432.1:p.Arg409Pro
NC_000007.13:g.107330645G>C
NM_000441.1:c.1226G>C
O43511:p.Arg409Pro
c.1226G>C

Protein change:

R409P

Links:

UniProtKB: O43511#VAR_021660; dbSNP: rs111033305

NCBI 1000 Genomes Browser:

rs111033305

Molecular consequence:

NM_000441.2:c.1226G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Rare genetic deafness
Identifiers:: MedGen: C5680250; Orphanet: 96210

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000060084	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	no assertion criteria provided	Likely pathogenic (Nov 5, 2009)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000060084

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

no assertion criteria provided

Likely pathogenic
(Nov 5, 2009)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.

Park HJ, Shaukat S, Liu XZ, Hahn SH, Naz S, Ghosh M, Kim HN, Moon SK, Abe S, Tukamoto K, Riazuddin S, Kabra M, Erdenetungalag R, Radnaabazar J, Khan S, Pandya A, Usami SI, Nance WE, Wilcox ER, Riazuddin S, Griffith AJ.

J Med Genet. 2003 Apr;40(4):242-8.

PubMed [citation]

PMID:: 12676893
PMCID:: PMC1735432

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000060084.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: Sep 29, 2024

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