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NM_153676.4(USH1C):c.445G>A (p.Glu149Lys) AND Autosomal recessive nonsyndromic hearing loss 18A

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 18, 2018
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:
RCV000735664.2

Allele description [Variation Report for NM_153676.4(USH1C):c.445G>A (p.Glu149Lys)]

NM_153676.4(USH1C):c.445G>A (p.Glu149Lys)

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.445G>A (p.Glu149Lys)
HGVS:
  • NC_000011.10:g.17527274C>T
  • NG_011883.2:g.22143G>A
  • NM_001297764.2:c.445G>A
  • NM_005709.4:c.445G>A
  • NM_153676.4:c.445G>AMANE SELECT
  • NP_001284693.1:p.Glu149Lys
  • NP_005700.2:p.Glu149Lys
  • NP_710142.1:p.Glu149Lys
  • NC_000011.9:g.17548821C>T
  • NG_011883.1:g.22143G>A
  • NM_005709.3:c.445G>A
  • NR_123738.2:n.554G>A
Protein change:
E149K
Links:
dbSNP: rs1565058763
NCBI 1000 Genomes Browser:
rs1565058763
Molecular consequence:
  • NM_001297764.2:c.445G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005709.4:c.445G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153676.4:c.445G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_123738.2:n.554G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000863805Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
no assertion criteria provided
Likely pathogenic
(Jan 18, 2018) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare, SCV000863805.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 4, 2023