NM_153676.4(USH1C):c.2184+10T>C AND not specified

Clinical significance:Likely benign (Last evaluated: Apr 30, 2012)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000155313.2

Allele description [Variation Report for NM_153676.4(USH1C):c.2184+10T>C]

NM_153676.4(USH1C):c.2184+10T>C

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.2184+10T>C
HGVS:
  • NC_000011.10:g.17504637A>G
  • NG_011883.1:g.44780T>C
  • NG_011883.2:g.44780T>C
  • NM_001297764.2:c.1228-2657T>C
  • NM_005709.4:c.1285-2657T>C
  • NM_153676.4:c.2184+10T>CMANE SELECT
  • NC_000011.9:g.17526184A>G
  • NM_005709.3:c.1285-2657T>C
  • NM_153676.3:c.2184+10T>C
Links:
dbSNP: rs200889109
NCBI 1000 Genomes Browser:
rs200889109
Molecular consequence:
  • NM_001297764.2:c.1228-2657T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_005709.4:c.1285-2657T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_153676.4:c.2184+10T>C - 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
SCV000204999Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Apr 30, 2012)
germlineclinical testing

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

SCV001925191Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedBenigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
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, SCV000204999.5

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

Description

2184+10T>C in Intron 20 of USH1C: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence and has been identified in 0.3% (10/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.was hington.edu/EVS).

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

From Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus, SCV001925191.1

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

Last Updated: Oct 6, 2021

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