NM_153676.4(USH1C):c.1413+13C>T AND not specified

Clinical significance:Likely benign (Last evaluated: Feb 4, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000215236.1

Allele description [Variation Report for NM_153676.4(USH1C):c.1413+13C>T]

NM_153676.4(USH1C):c.1413+13C>T

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.1413+13C>T
HGVS:
  • NC_000011.10:g.17511889G>A
  • NG_011883.1:g.37528C>T
  • NG_011883.2:g.37528C>T
  • NM_001297764.2:c.1227+5512C>T
  • NM_005709.4:c.1284+5512C>T
  • NM_153676.4:c.1413+13C>TMANE SELECT
  • NC_000011.9:g.17533436G>A
  • NM_153676.3:c.1413+13C>T
Links:
dbSNP: rs876657623
NCBI 1000 Genomes Browser:
rs876657623
Molecular consequence:
  • NM_001297764.2:c.1227+5512C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_005709.4:c.1284+5512C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_153676.4:c.1413+13C>T - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

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
SCV000271145Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Feb 4, 2015)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000271145.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

c.1413+13C>T in intron 16 of USH1C: This variant is not expected to have clinica l significance because it does not alter an amino acid residue and is not locate d within the splice consensus sequence.

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

Last Updated: Jul 7, 2021

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