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NM_153700.2(STRC):c.4484_4485del (p.Phe1495fs) AND Autosomal recessive nonsyndromic hearing loss 16

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 4, 2023
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:
RCV003991489.1

Allele description [Variation Report for NM_153700.2(STRC):c.4484_4485del (p.Phe1495fs)]

NM_153700.2(STRC):c.4484_4485del (p.Phe1495fs)

Gene:
STRC:stereocilin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q15.3
Genomic location:
Preferred name:
NM_153700.2(STRC):c.4484_4485del (p.Phe1495fs)
HGVS:
  • NC_000015.10:g.43603303_43603304del
  • NG_011636.1:g.20498_20499del
  • NM_153700.2:c.4484_4485delMANE SELECT
  • NP_714544.1:p.Phe1495fs
  • NC_000015.9:g.43895501_43895502del
  • NM_153700.2:c.4483_4484delMANE SELECT
Protein change:
F1495fs
Molecular consequence:
  • NM_153700.2:c.4484_4485del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 16
Synonyms:
Deafness, autosomal recessive 16; DFNB16 Nonsyndromic Hearing Loss and Deafness
Identifiers:
MONDO: MONDO:0011364; MedGen: C1863561; Orphanet: 90636; OMIM: 603720

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004041565Genetics Department, Hospital Ramon y Cajal-IRYCIS
criteria provided, single submitter

(ClinGen HL ACMG Specifications v1)		Pathogenic
(Oct 4, 2023) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; et al.

Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630.

PubMed [citation]
PMID:
30311386
PMCID:
PMC6188673

Details of each submission

From Genetics Department, Hospital Ramon y Cajal-IRYCIS, SCV004041565.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 15, 2024