NM_153676.4(USH1C):c.2047C>T (p.Pro683Ser) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Mar 8, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000041264.2

Allele description [Variation Report for NM_153676.4(USH1C):c.2047C>T (p.Pro683Ser)]

NM_153676.4(USH1C):c.2047C>T (p.Pro683Ser)

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.2047C>T (p.Pro683Ser)
HGVS:
  • NC_000011.10:g.17505916G>A
  • NG_011883.1:g.43501C>T
  • NG_011883.2:g.43501C>T
  • NM_001297764.2:c.1228-3936C>T
  • NM_005709.4:c.1285-3936C>T
  • NM_153676.4:c.2047C>TMANE SELECT
  • NP_710142.1:p.Pro683Ser
  • NC_000011.9:g.17527463G>A
  • NM_153676.3:c.2047C>T
  • c.2047C>T
Protein change:
P683S
Links:
dbSNP: rs397517873
NCBI 1000 Genomes Browser:
rs397517873
Molecular consequence:
  • NM_001297764.2:c.1228-3936C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_005709.4:c.1285-3936C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_153676.4:c.2047C>T - missense variant - [Sequence Ontology: SO:0001583]
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
SCV000064955Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Mar 8, 2011)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided21not 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, SCV000064955.6

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

Description

The Pro683Ser variant in USH1C has not been reported in the literature nor previ ously identified by our laboratory. Computational analyses (biochemical amino ac id properties, homology, PolyPhen2, SIFT, AlignGVGD) do not provide strong suppo rt for or against pathogenicity. In summary, the clinical significance of this v ariant cannot be determined with certainty at this time.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided1not provided

Last Updated: Jul 7, 2021

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