NM_153676.4(USH1C):c.2134-12T>C AND not specified

Clinical significance:Benign (Last evaluated: May 8, 2013)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000041265.4

Allele description [Variation Report for NM_153676.4(USH1C):c.2134-12T>C]

NM_153676.4(USH1C):c.2134-12T>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.2134-12T>C
HGVS:
  • NC_000011.10:g.17504709A>G
  • NG_011883.1:g.44708T>C
  • NG_011883.2:g.44708T>C
  • NM_001297764.2:c.1228-2729T>C
  • NM_005709.4:c.1285-2729T>C
  • NM_153676.4:c.2134-12T>CMANE SELECT
  • NC_000011.9:g.17526256A>G
  • NM_005709.3:c.1285-2729T>C
  • NM_153676.2:c.2134-12T>C
  • NM_153676.3:c.2134-12T>C
  • c.2134-12T>C
Links:
dbSNP: rs76769358
NCBI 1000 Genomes Browser:
rs76769358
Molecular consequence:
  • NM_001297764.2:c.1228-2729T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_005709.4:c.1285-2729T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_153676.4:c.2134-12T>C - intron variant - [Sequence Ontology: SO:0001627]
Observations:
10

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
SCV000064956Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(Mar 26, 2012)
germlineclinical testing

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

SCV000169727GeneDxcriteria provided, single submitter
Benign
(May 8, 2013)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot provided1010not 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, SCV000064956.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided10not providednot providedclinical testing PubMed (1)

Description

2134-12T>C in intron 21 of USH1C: This variant is not expected to have clinical significance because it has been identified in 7.7% (524/7020) of European Ameri can chromosomes and 1.7% (62/3738) of African American chromosomes in a broad po pulation by the NHLBI Exome sequencing project (http://evs.gs.washington.edu/EVS /; dbSNP rs76769358).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided10not provided10not provided

From GeneDx, SCV000169727.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 26, 2021

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