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NM_153676.4(USH1C):c.2377C>T (p.His793Tyr) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 26, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002559236.1

Allele description

NM_153676.4(USH1C):c.2377C>T (p.His793Tyr)

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.2377C>T (p.His793Tyr)
HGVS:
  • NC_000011.10:g.17501054G>A
  • NG_011883.2:g.48363C>T
  • NM_001297764.2:c.1420C>T
  • NM_005709.4:c.1477C>T
  • NM_153676.4:c.2377C>TMANE SELECT
  • NP_001284693.1:p.His474Tyr
  • NP_005700.2:p.His493Tyr
  • NP_710142.1:p.His793Tyr
  • NC_000011.9:g.17522601G>A
  • NG_011883.1:g.48363C>T
  • NM_005709.3:c.1477C>T
  • NR_123738.2:n.1512C>T
Protein change:
H474Y
Links:
dbSNP: rs372227474
NCBI 1000 Genomes Browser:
rs372227474
Molecular consequence:
  • NM_001297764.2:c.1420C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005709.4:c.1477C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153676.4:c.2377C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_123738.2:n.1512C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003729388Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Jan 26, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV003729388.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.1477C>T (p.H493Y) alteration is located in exon 18 (coding exon 18) of the USH1C gene. This alteration results from a C to T substitution at nucleotide position 1477, causing the histidine (H) at amino acid position 493 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Mar 18, 2023