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NM_153676.4(USH1C):c.598G>A (p.Gly200Ser) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 2, 2018
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:
RCV000671786.1

Allele description [Variation Report for NM_153676.4(USH1C):c.598G>A (p.Gly200Ser)]

NM_153676.4(USH1C):c.598G>A (p.Gly200Ser)

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.598G>A (p.Gly200Ser)
HGVS:
  • NC_000011.10:g.17526423C>T
  • NG_011883.1:g.22994G>A
  • NG_011883.2:g.22994G>A
  • NM_001297764.2:c.598G>A
  • NM_005709.4:c.598G>A
  • NM_153676.4:c.598G>AMANE SELECT
  • NP_001284693.1:p.Gly200Ser
  • NP_005700.2:p.Gly200Ser
  • NP_710142.1:p.Gly200Ser
  • NC_000011.9:g.17547970C>T
  • NM_005709.3:c.598G>A
  • NR_123738.2:n.707G>A
Protein change:
G200S
Links:
dbSNP: rs770543827
NCBI 1000 Genomes Browser:
rs770543827
Molecular consequence:
  • NM_001297764.2:c.598G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005709.4:c.598G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153676.4:c.598G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_123738.2:n.707G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Usher syndrome type 1C
Synonyms:
USHER SYNDROME, TYPE I, ACADIAN VARIETY; Usher syndrome, Acadian variety
Identifiers:
MONDO: MONDO:0010171; MedGen: C1848604; Orphanet: 231169; Orphanet: 886; OMIM: 276904
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
SCV000796806Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Jan 2, 2018) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.

Ganapathy A, Pandey N, Srisailapathy CR, Jalvi R, Malhotra V, Venkatappa M, Chatterjee A, Sharma M, Santhanam R, Chadha S, Ramesh A, Agarwal AK, Rangasayee RR, Anand A.

PLoS One. 2014;9(1):e84773. doi: 10.1371/journal.pone.0084773.

PubMed [citation]
PMID:
24416283
PMCID:
PMC3885616

Details of each submission

From Counsyl, SCV000796806.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 17, 2022