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NM_153700.2(STRC):c.4298G>A (p.Cys1433Tyr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 14, 2014
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000151948.4

Allele description [Variation Report for NM_153700.2(STRC):c.4298G>A (p.Cys1433Tyr)]

NM_153700.2(STRC):c.4298G>A (p.Cys1433Tyr)

Gene:
STRC:stereocilin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q15.3
Genomic location:
Preferred name:
NM_153700.2(STRC):c.4298G>A (p.Cys1433Tyr)
HGVS:
  • NC_000015.10:g.43604073C>T
  • NG_011636.1:g.19728G>A
  • NM_153700.2:c.4298G>AMANE SELECT
  • NP_714544.1:p.Cys1433Tyr
  • NC_000015.9:g.43896271C>T
Protein change:
C1433Y
Links:
dbSNP: rs202189597
NCBI 1000 Genomes Browser:
rs202189597
Molecular consequence:
  • NM_153700.2:c.4298G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000200481Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(May 14, 2014) 		germlineclinical testing

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

Help

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, Mass General Brigham Personalized Medicine, SCV000200481.5

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

Description

Variant classified as Uncertain Significance - Favor Pathogenic. The Cys1433Tyr variant in STRC has not been previously reported in individuals with hearing los s, but has been identified in 1/1316 chromosomes from a broad population by the ClinSeq Project (dbSNP rs202189597), though this frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation ana lyses suggest that the Cys1433Tyr variant may impact the protein; however, this information is not predictive enough to determine pathogenicity. The presence of this variant in combination with a reported pathogenic STRC variant in an indiv idual with hearing loss, increases the likelihood that the Cys1433Tyr variant is pathogenic, though additional studies are needed to confirm this. In summary, while the available data suggest a pathogenic role for the Cys1433Tyr variant, w ithout additional data, the clinical significance of this variant is uncertain.

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

Last Updated: Dec 24, 2022