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NM_153700.2(STRC):c.[4057C>T];[4171C>G] AND Autosomal dominant nonsyndromic hearing loss 16

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 19, 2016
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:
RCV000225080.6

Allele description [Variation Report for NM_153700.2(STRC):c.[4057C>T];[4171C>G]]

NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly)

Gene:
STRC:stereocilin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q15.3
Genomic location:
Preferred name:
NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly)
HGVS:
  • NC_000015.10:g.43604408G>C
  • NG_011636.1:g.19393C>G
  • NM_153700.2:c.4171C>GMANE SELECT
  • NP_714544.1:p.Arg1391Gly
  • NC_000015.9:g.43896606G>C
Protein change:
R1391G
Links:
dbSNP: rs376104748
NCBI 1000 Genomes Browser:
rs376104748
Molecular consequence:
  • NM_153700.2:c.4171C>G - missense variant - [Sequence Ontology: SO:0001583]

NM_153700.2(STRC):c.4057C>T (p.Gln1353Ter)

Gene:
STRC:stereocilin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q15.3
Genomic location:
Preferred name:
NM_153700.2(STRC):c.4057C>T (p.Gln1353Ter)
HGVS:
  • NC_000015.10:g.43604720G>A
  • NG_011636.1:g.19081C>T
  • NM_153700.2:c.4057C>TMANE SELECT
  • NP_714544.1:p.Gln1353Ter
  • NC_000015.9:g.43896918G>A
  • p.Gln1353X
Protein change:
Q1353*
Links:
dbSNP: rs774312182
NCBI 1000 Genomes Browser:
rs774312182
Molecular consequence:
  • NM_153700.2:c.4057C>T - nonsense - [Sequence Ontology: SO:0001587]
Functional consequence:
functional variant [Sequence Ontology: SO:0001536]

Condition(s)

Name:
Autosomal dominant nonsyndromic hearing loss 16
Synonyms:
Deafness, autosomal dominant 16
Identifiers:
MONDO: MONDO:0011389; MedGen: C1858916; Orphanet: 90635; OMIM: 603964

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000282020Laboratory of Prof. Karen Avraham, Tel Aviv University
no assertion criteria provided
Pathogenic
(Feb 19, 2016) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Laboratory of Prof. Karen Avraham, Tel Aviv University, SCV000282020.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

Congenital, mild-moderate HL

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

Last Updated: Oct 20, 2024