NM_153676.4(USH1C):c.1386G>A (p.Gln462=) 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:
1 submission [Details]
Record status:
current
Accession:
RCV001195474.1

Allele description [Variation Report for NM_153676.4(USH1C):c.1386G>A (p.Gln462=)]

NM_153676.4(USH1C):c.1386G>A (p.Gln462=)

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.1386G>A (p.Gln462=)
HGVS:
  • NC_000011.10:g.17511929C>T
  • NG_011883.1:g.37488G>A
  • NG_011883.2:g.37488G>A
  • NM_001297764.2:c.1227+5472G>A
  • NM_005709.4:c.1284+5472G>A
  • NM_153676.4:c.1386G>AMANE SELECT
  • NP_710142.1:p.Gln462=
  • NC_000011.9:g.17533476C>T
  • NM_005709.3:c.1284+5472G>A
Links:
dbSNP: rs141564204
NCBI 1000 Genomes Browser:
rs141564204
Molecular consequence:
  • NM_001297764.2:c.1227+5472G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_005709.4:c.1284+5472G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_153676.4:c.1386G>A - synonymous variant - [Sequence Ontology: SO:0001819]
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
SCV001365851Laboratory 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]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown11not 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, SCV001365851.1

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

Description

Gln462Gln in Exon 16 of USH1C: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.1% (4/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs141564204).

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

Last Updated: Sep 23, 2021

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