NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr) AND Usher syndrome type 1F

Clinical significance:Likely benign (Last evaluated: Jan 9, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000664808.1

Allele description [Variation Report for NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr)]

NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr)

Gene:
PCDH15:protocadherin related 15 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q21.1
Genomic location:
Preferred name:
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr)
HGVS:
  • NC_000010.11:g.54022983A>G
  • NG_009191.3:g.1611200T>C
  • NM_001142763.2:c.2450T>C
  • NM_001142764.2:c.2435T>C
  • NM_001142765.2:c.2222T>C
  • NM_001142766.2:c.2435T>C
  • NM_001142767.2:c.2324T>C
  • NM_001142768.2:c.2369T>C
  • NM_001142769.3:c.2471T>C
  • NM_001142770.3:c.2435T>C
  • NM_001142771.2:c.2450T>C
  • NM_001142772.2:c.2435T>C
  • NM_001142773.2:c.2369T>C
  • NM_001354404.2:c.2369T>C
  • NM_001354411.2:c.2456T>C
  • NM_001354420.2:c.2435T>C
  • NM_001354429.2:c.2435T>C
  • NM_001354430.2:c.2435T>C
  • NM_001384140.1:c.2435T>CMANE SELECT
  • NM_033056.4:c.2435T>C
  • NP_001136235.1:p.Ile817Thr
  • NP_001136236.1:p.Ile812Thr
  • NP_001136237.1:p.Ile741Thr
  • NP_001136238.1:p.Ile812Thr
  • NP_001136239.1:p.Ile775Thr
  • NP_001136240.1:p.Ile790Thr
  • NP_001136241.1:p.Ile824Thr
  • NP_001136242.1:p.Ile812Thr
  • NP_001136243.1:p.Ile817Thr
  • NP_001136244.1:p.Ile812Thr
  • NP_001136245.1:p.Ile790Thr
  • NP_001341333.1:p.Ile790Thr
  • NP_001341340.1:p.Ile819Thr
  • NP_001341349.1:p.Ile812Thr
  • NP_001341358.1:p.Ile812Thr
  • NP_001341359.1:p.Ile812Thr
  • NP_001371069.1:p.Ile812Thr
  • NP_149045.3:p.Ile812Thr
  • NC_000010.10:g.55782743A>G
  • NM_033056.3:c.2435T>C
Protein change:
I741T
Links:
dbSNP: rs61731363
NCBI 1000 Genomes Browser:
rs61731363
Molecular consequence:
  • NM_001142763.2:c.2450T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142764.2:c.2435T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142765.2:c.2222T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142766.2:c.2435T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142767.2:c.2324T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142768.2:c.2369T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142769.3:c.2471T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142770.3:c.2435T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142771.2:c.2450T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142772.2:c.2435T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001142773.2:c.2369T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354404.2:c.2369T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354411.2:c.2456T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354420.2:c.2435T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354429.2:c.2435T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354430.2:c.2435T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384140.1:c.2435T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033056.4:c.2435T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Usher syndrome type 1F (USH1F)
Synonyms:
USHER SYNDROME, TYPE IF
Identifiers:
MONDO: MONDO:0011186; MedGen: C1865885; Orphanet: 231169; Orphanet: 886; OMIM: 602083

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000788823Counsylcriteria provided, single submitter
Likely benign
(Jan 9, 2017)
unknownclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Utilization of amplicon-based targeted sequencing panel for the massively parallel sequencing of sporadic hearing impairment patients from Saudi Arabia.

Dallol A, Daghistani K, Elaimi A, Al-Wazani WA, Bamanie A, Safiah M, Sagaty S, Taha L, Zahed R, Bajouh O, Chaudhary AG, Gari MA, Turki R, Al-Qahtani MH, Abuzenadah AM.

BMC Med Genet. 2016 Oct 10;17(Suppl 1):67.

PubMed [citation]
PMID:
27766948
PMCID:
PMC5073994

Details of each submission

From Counsyl, SCV000788823.1

#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: Nov 27, 2021

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