NM_153700.2(STRC):c.3557_5328del (p.Gln1186fs) AND Autosomal recessive nonsyndromic hearing loss 16

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 1, 2021
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001822917.1

Allele description [Variation Report for NM_153700.2(STRC):c.3557_5328del (p.Gln1186fs)]

NM_153700.2(STRC):c.3557_5328del (p.Gln1186fs)

Gene:

STRC:stereocilin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

15q15.3

Genomic location:

Preferred name:

NM_153700.2(STRC):c.3557_5328del (p.Gln1186fs)

HGVS:

NC_000015.10:g.43599672_43609276del
NG_011636.1:g.14525_24129del
NM_153700.2:c.3557_5328delMANE SELECT
NP_714544.1:p.Gln1186fs
NC_000015.9:g.43891870_43901474del

Protein change:

Q1186fs

Molecular consequence:

NM_153700.2:c.3557_5328del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_153700.2:c.3557_5328del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_153700.2:c.3557_5328del - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV001762446	WangQJ Lab, Chinese People's Liberation Army General Hospital	no assertion criteria provided	Likely pathogenic (Jul 1, 2021)	maternal	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001762446

WangQJ Lab, Chinese People's Liberation Army General Hospital

no assertion criteria provided

Likely pathogenic
(Jul 1, 2021)

maternal

clinical testing

Help

Summary from all submissions

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

Details of each submission

From WangQJ Lab, Chinese People's Liberation Army General Hospital, SCV001762446.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Apr 23, 2023

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