NM_153676.4(USH1C):c.2004C>A (p.Pro668=) AND not specified

Clinical significance:Likely benign (Last evaluated: Aug 23, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000825846.1

Allele description [Variation Report for NM_153676.4(USH1C):c.2004C>A (p.Pro668=)]

NM_153676.4(USH1C):c.2004C>A (p.Pro668=)

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.2004C>A (p.Pro668=)
HGVS:
  • NC_000011.10:g.17509365G>T
  • NG_011883.1:g.40052C>A
  • NG_011883.2:g.40052C>A
  • NM_001297764.2:c.1228-7385C>A
  • NM_005709.4:c.1285-7385C>A
  • NM_153676.4:c.2004C>AMANE SELECT
  • NP_710142.1:p.Pro668=
  • NC_000011.9:g.17530912G>T
  • NM_005709.3:c.1285-7385C>A
  • NM_153676.3:c.2004C>A
  • p.Pro668Pro
Links:
dbSNP: rs201586291
NCBI 1000 Genomes Browser:
rs201586291
Molecular consequence:
  • NM_001297764.2:c.1228-7385C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_005709.4:c.1285-7385C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_153676.4:c.2004C>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
SCV000967330Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Aug 23, 2017)
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, SCV000967330.1

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

Description

p.Pro668Pro in exon 18 of USH1C: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.41% (47/11468) of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs201586291).

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

Last Updated: Jul 7, 2021

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