NM_153700.2(STRC):c.2171_2174del (p.Val724fs) AND Autosomal recessive nonsyndromic hearing loss 16

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Nov 10, 2022
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:: RCV000004592.5

Allele description [Variation Report for NM_153700.2(STRC):c.2171_2174del (p.Val724fs)]

NM_153700.2(STRC):c.2171_2174del (p.Val724fs)

Gene:

STRC:stereocilin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

15q15.3

Genomic location:

Preferred name:

NM_153700.2(STRC):c.2171_2174del (p.Val724fs)

HGVS:

NC_000015.10:g.43614438_43614441del
NG_011636.1:g.9362_9365del
NM_153700.2:c.2171_2174delMANE SELECT
NP_714544.1:p.Val724fs
NC_000015.9:g.43906636_43906639del

Protein change:

V724fs

Links:

OMIM: 606440.0002; dbSNP: rs786200883

NCBI 1000 Genomes Browser:

rs786200883

Molecular consequence:

NM_153700.2:c.2171_2174del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000024766	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 2001)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV002756428	The Shared Resource Centre "Genome", Research Centre for Medical Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 10, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000024766

OMIM

no assertion criteria provided

Pathogenic
(Nov 1, 2001)

germline

literature only

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

SCV002756428

The Shared Resource Centre "Genome", Research Centre for Medical Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 10, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	yes	4	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus.

Verpy E, Masmoudi S, Zwaenepoel I, Leibovici M, Hutchin TP, Del Castillo I, Nouaille S, Blanchard S, Lainé S, Popot JL, Moreno F, Mueller RF, Petit C.

Nat Genet. 2001 Nov;29(3):345-9.

PubMed [citation]

PMID:: 11687802

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From OMIM, SCV000024766.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In affected members of a family with autosomal recessive deafness-16 (DFNB16; 603720), Verpy et al. (2001) identified compound heterozygous deletions in the STRC gene: a 4-bp deletion in exon 5 (c.2171_2174delTTTG) inherited from the father, and a larger deletion encompassing exons 17 to 29 (606440.0003) inherited from the mother. The 4-bp deletion was predicted to result in the translation of 5 out-of-frame amino acids and a downstream premature termination codon at position 2185 in exon 5. The authors located the 5-prime boundary of the larger deletion between intron 7 and the 3-prime end of intron 16, and the 3-prime boundary downstream of the most 3-prime exon, indicating that the deletion extended at least from exons 17 through 29.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From The Shared Resource Centre "Genome", Research Centre for Medical Genetics, SCV002756428.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		4	not provided	not provided	not provided

Last Updated: Apr 23, 2023

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