NM_004999.4(MYO6):c.*1139del AND Nonsyndromic Hearing Loss, Recessive

delete

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000349958.5

Allele description

NM_004999.4(MYO6):c.*1139del

Gene:

MYO6:myosin VI [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6q14.1

Genomic location:

Preferred name:

NM_004999.4(MYO6):c.*1139del

HGVS:

NC_000006.12:g.75916151del
NG_009934.2:g.171959del
NM_001300899.2:c.*1139del
NM_001368136.1:c.*1139del
NM_001368137.1:c.*1139del
NM_001368138.1:c.*1139del
NM_001368865.1:c.*1139del
NM_001368866.1:c.*1139del
NM_004999.4:c.*1139delMANE SELECT
LRG_438t1:c.*1139del
LRG_438:g.171959del
NC_000006.11:g.76625868del
NG_009934.1:g.171960del
NM_004999.3:c.*1139delA
NR_160538.1:n.5226del

Links:

dbSNP: rs3834289

NCBI 1000 Genomes Browser:

rs3834289

Molecular consequence:

NM_001300899.2:c.*1139del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001368136.1:c.*1139del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001368137.1:c.*1139del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001368138.1:c.*1139del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001368865.1:c.*1139del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001368866.1:c.*1139del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_004999.4:c.*1139del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NR_160538.1:n.5226del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Nonsyndromic Hearing Loss, Recessive
Identifiers:: MedGen: CN239439

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000465443	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Likely benign (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000465443

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Likely benign
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000465443.2

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 9, 2023

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