NM_033056.3(PCDH15):c.4368-2A>T AND Usher syndrome, type 1F

Clinical significance:Likely pathogenic (Last evaluated: Feb 22, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000410459.1

Allele description

NM_033056.3(PCDH15):c.4368-2A>T

Gene:
PCDH15:protocadherin related 15 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q21.1
Genomic location:
Preferred name:
NM_033056.3(PCDH15):c.4368-2A>T
HGVS:
  • NC_000010.11:g.53823360T>A
  • NG_009191.3:g.1810823A>T
  • NM_001142769.2:c.4409+1776A>T
  • NM_033056.3:c.4368-2A>T
  • NC_000010.10:g.55583120T>A
Links:
dbSNP: rs1057516557; dbSNP: rs989521806
NCBI 1000 Genomes Browser:
rs1057516557
Molecular consequence:
  • NM_001142769.2:c.4409+1776A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_033056.3:c.4368-2A>T - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Usher syndrome, type 1F (USH1F)
Synonyms:
USHER SYNDROME, TYPE IF
Identifiers:
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
SCV000485867Counsylcriteria provided, single submitter
Likely pathogenic
(Feb 22, 2016)
unknownclinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000485867.1

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

Last Updated: Mar 9, 2018