NM_153700.2(STRC):c.3499_4701+1del AND Autosomal recessive nonsyndromic hearing loss 16

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 29, 2019
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:: RCV000853502.1

Allele description [Variation Report for NM_153700.2(STRC):c.3499_4701+1del]

NM_153700.2(STRC):c.3499_4701+1del

Gene:

STRC:stereocilin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

15q15.3

Genomic location:

Preferred name:

NM_153700.2(STRC):c.3499_4701+1del

HGVS:

NC_000015.10:g.43601396_43609335del
NG_011636.1:g.14467_22406del
NM_153700.2:c.3499_4701+1delMANE SELECT
NC_000015.9:g.43893593_43901532del
NC_000015.9:g.43893594_43901533del

Molecular consequence:

NM_153700.2:c.3499_4701+1del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_153700.2:c.3499_4701+1del - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000996435	Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 29, 2019)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 22147502, 24963352, 11687802, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000996435

Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 29, 2019)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment.

Francey LJ, Conlin LK, Kadesch HE, Clark D, Berrodin D, Sun Y, Glessner J, Hakonarson H, Jalas C, Landau C, Spinner NB, Kenna M, Sagi M, Rehm HL, Krantz ID.

Am J Med Genet A. 2012 Feb;158A(2):298-308. doi: 10.1002/ajmg.a.34391. Epub 2011 Dec 6.

PubMed [citation]

PMID:: 22147502
PMCID:: PMC3264741

Copy number variants are a common cause of non-syndromic hearing loss.

Shearer AE, Kolbe DL, Azaiez H, Sloan CM, Frees KL, Weaver AE, Clark ET, Nishimura CJ, Black-Ziegelbein EA, Smith RJ.

Genome Med. 2014;6(5):37. doi: 10.1186/gm554.

PubMed [citation]

PMID:: 24963352
PMCID:: PMC4067994

See all PubMed Citations (4)

Details of each submission

From Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota, SCV000996435.1

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

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

Last Updated: Apr 23, 2023

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