NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg) AND not specified

Clinical significance:Likely benign (Last evaluated: Feb 6, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000041259.4

Allele description [Variation Report for NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg)]

NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg)

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.1823C>G (p.Pro608Arg)
Other names:
R608P
HGVS:
  • NC_000011.10:g.17509546G>C
  • NG_011883.1:g.39871C>G
  • NG_011883.2:g.39871C>G
  • NM_001297764.2:c.1228-7566C>G
  • NM_005709.4:c.1285-7566C>G
  • NM_153676.4:c.1823C>GMANE SELECT
  • NP_710142.1:p.Pro608Arg
  • NC_000011.9:g.17531093G>C
  • NM_153676.3:c.1823C>G
  • c.1823C>G
Protein change:
P608R; ARG608PRO
Links:
OMIM: 605242.0009; dbSNP: rs41282932
NCBI 1000 Genomes Browser:
rs41282932
Molecular consequence:
  • NM_001297764.2:c.1228-7566C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_005709.4:c.1285-7566C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_153676.4:c.1823C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000064950Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Feb 6, 2015)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided33not providednot providednot providedclinical testing

Citations

PubMed

Development of a genotyping microarray for Usher syndrome.

Cremers FP, Kimberling WJ, Külm M, de Brouwer AP, van Wijk E, te Brinke H, Cremers CW, Hoefsloot LH, Banfi S, Simonelli F, Fleischhauer JC, Berger W, Kelley PM, Haralambous E, Bitner-Glindzicz M, Webster AR, Saihan Z, De Baere E, Leroy BP, Silvestri G, McKay GJ, Koenekoop RK, et al.

J Med Genet. 2007 Feb;44(2):153-60. Epub 2006 Sep 8.

PubMed [citation]
PMID:
16963483
PMCID:
PMC2598068

Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.

Ouyang XM, Xia XJ, Verpy E, Du LL, Pandya A, Petit C, Balkany T, Nance WE, Liu XZ.

Hum Genet. 2002 Jul;111(1):26-30. Epub 2002 Jun 18.

PubMed [citation]
PMID:
12136232
See all PubMed Citations (4)

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000064950.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (4)

Description

p.Pro608Arg in exon 18 of USH1C: This variant has been previously reported in 3 individuals with Usher syndrome or hearing loss and 2 individuals by our laborat ory; 3 of whom have another genetic etiology to explain their hearing loss (Crem ers 2007, Vera 2014, LMM unpublished data). This variant has also been identifie d in 0.1% (51/60306) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs41282932). In summary, the prese nce of this variant in 3 individuals with another etiology for hearing loss and its frequency in the general population suggest that it is likely benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided3not provided3not provided

Last Updated: Sep 29, 2021

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