NM_000441.2(SLC26A4):c.1149+3A>G AND Rare genetic deafness

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 11, 2008
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:: RCV000036424.5

Allele description [Variation Report for NM_000441.2(SLC26A4):c.1149+3A>G]

NM_000441.2(SLC26A4):c.1149+3A>G

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.1149+3A>G

HGVS:

NC_000007.14:g.107689203A>G
NG_008489.1:g.33569A>G
NM_000441.2:c.1149+3A>GMANE SELECT
NC_000007.13:g.107329648A>G
NM_000441.1:c.1149+3A>G
c.1149+3A>G

Links:

dbSNP: rs111033314

NCBI 1000 Genomes Browser:

rs111033314

Molecular consequence:

NM_000441.2:c.1149+3A>G - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000060079	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	no assertion criteria provided	Pathogenic (Nov 11, 2008)	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

SCV000060079

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

no assertion criteria provided

Pathogenic
(Nov 11, 2008)

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	2	1	not provided	not provided	not provided	clinical 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

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000060079.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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		2	not provided	1	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine