NM_153676.4(USH1C):c.1019+5G>C AND Autosomal recessive nonsyndromic hearing loss 18A

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 1, 2002
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:: RCV000005454.3

Allele description [Variation Report for NM_153676.4(USH1C):c.1019+5G>C]

NM_153676.4(USH1C):c.1019+5G>C

Gene:

USH1C:USH1 protein network component harmonin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

Preferred name:

NM_153676.4(USH1C):c.1019+5G>C

HGVS:

NC_000011.10:g.17522779C>G
NG_011883.1:g.26638G>C
NG_011883.2:g.26638G>C
NM_001297764.2:c.962+5G>C
NM_005709.4:c.1019+5G>C
NM_153676.4:c.1019+5G>CMANE SELECT
NC_000011.9:g.17544326C>G
NM_005709.3:c.1019+5G>C

Note:

ClinGen staff contributed the HGVS expression for this variant.

Nucleotide change:

IVS12DS, G-C, +5

Links:

OMIM: 605242.0008; dbSNP: rs1592002789

NCBI 1000 Genomes Browser:

rs1592002789

Molecular consequence:

NM_001297764.2:c.962+5G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_005709.4:c.1019+5G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_153676.4:c.1019+5G>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Autosomal recessive nonsyndromic hearing loss 18A
Synonyms:: Deafness, autosomal recessive 18; Deafness, autosomal recessive 18A
Identifiers:: MONDO: MONDO:0011192; MedGen: C1865870; Orphanet: 90636; OMIM: 602092

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000025636	OMIM	no assertion criteria provided	Pathogenic (Jun 1, 2002)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000025636

OMIM

no assertion criteria provided

Pathogenic
(Jun 1, 2002)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

Ahmed ZM, Smith TN, Riazuddin S, Makishima T, Ghosh M, Bokhari S, Menon PS, Deshmukh D, Griffith AJ, Riazuddin S, Friedman TB, Wilcox ER.

Hum Genet. 2002 Jun;110(6):527-31. Epub 2002 May 3.

PubMed [citation]

PMID:: 12107438

Details of each submission

From OMIM, SCV000025636.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In an Indian family in which nonsyndromic recessive deafness (DFNB18A; 602092) had been mapped to the same region of 11p as USH1C, Ahmed et al. (2002) identified a leaky splice site mutation in the harmonin gene, a G-to-C transversion at the +5 position of intron 12. Although affected individuals were homozygous for the mutation, wildtype spliced mRNA having exons 11 and 12 as well as mRNA that skipped exon 12 were found.

#	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		not provided	not provided	not provided	not provided

Last Updated: Sep 17, 2022

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