NM_206933.4(USH2A):c.12067-1G>C AND Rare genetic deafness

Clinical significance:Pathogenic (Last evaluated: Oct 5, 2010)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000041711.2

Allele description [Variation Report for NM_206933.4(USH2A):c.12067-1G>C]

NM_206933.4(USH2A):c.12067-1G>C

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.12067-1G>C
HGVS:
  • NC_000001.11:g.215680377C>G
  • NG_009497.1:g.748020G>C
  • NG_009497.2:g.748072G>C
  • NM_206933.4:c.12067-1G>CMANE SELECT
  • NC_000001.10:g.215853719C>G
  • NM_206933.2:c.12067-1G>C
  • c.12067-1G>C
Links:
dbSNP: rs397517977
NCBI 1000 Genomes Browser:
rs397517977
Molecular consequence:
  • NM_206933.4:c.12067-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
Observations:
2

Condition(s)

Name:
Rare genetic deafness
Identifiers:
MedGen: CN826980; Orphanet: 96210

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000065407Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Pathogenic
(Oct 5, 2010)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided22not 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, SCV000065407.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

The 12067-1G>C variant in USH2A has not been reported in the literature nor prev iously identified by our laboratory. The 12067-1G>C variant is predicted to caus e abnormal splicing because the nucleotide substitution occurs in the invariant region of the splice consensus sequence. In summary, this variant meets our crit eria to be classified as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided2not provided

Last Updated: Nov 27, 2021

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