NM_004999.4(MYO6):c.2442_2445dup (p.Ala816Ter) AND Autosomal dominant nonsyndromic hearing loss 22

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 7, 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:: RCV002289334.1

Allele description [Variation Report for NM_004999.4(MYO6):c.2442_2445dup (p.Ala816Ter)]

NM_004999.4(MYO6):c.2442_2445dup (p.Ala816Ter)

Gene:

MYO6:myosin VI [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

6q14.1

Genomic location:

Preferred name:

NM_004999.4(MYO6):c.2442_2445dup (p.Ala816Ter)

HGVS:

NC_000006.12:g.75886029_75886032dup
NG_009934.2:g.141837_141840dup
NM_001300899.2:c.2442_2445dup
NM_001368136.1:c.2442_2445dup
NM_001368137.1:c.2442_2445dup
NM_001368138.1:c.2427_2430dup
NM_001368865.1:c.2442_2445dup
NM_001368866.1:c.2442_2445dup
NM_004999.4:c.2442_2445dupMANE SELECT
NP_001287828.1:p.Ala816Ter
NP_001355065.1:p.Ala816Ter
NP_001355066.1:p.Ala816Ter
NP_001355067.1:p.Ala811Ter
NP_001355794.1:p.Ala816Ter
NP_001355795.1:p.Ala816Ter
NP_004990.3:p.Ala816Ter
LRG_438t1:c.2442_2445dup
LRG_438:g.141837_141840dup
LRG_438p1:p.Ala816Ter
NC_000006.11:g.76595746_76595749dup
NR_160538.1:n.2767_2770dup

Protein change:

A811*

Molecular consequence:

NR_160538.1:n.2767_2770dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001300899.2:c.2442_2445dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001368136.1:c.2442_2445dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001368137.1:c.2442_2445dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001368138.1:c.2427_2430dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001368865.1:c.2442_2445dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001368866.1:c.2442_2445dup - nonsense - [Sequence Ontology: SO:0001587]
NM_004999.4:c.2442_2445dup - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Autosomal dominant nonsyndromic hearing loss 22
Synonyms:: Deafness, autosomal dominant 22; Autosomal dominant nonsyndromic deafness 22; Deafness, autosomal dominant nonsyndromic sensorineural 22; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011660; MedGen: C2931767; Orphanet: 228012; OMIM: 606346

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002580083	MGZ Medical Genetics Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jun 7, 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

SCV002580083

MGZ Medical Genetics Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jun 7, 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	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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 MGZ Medical Genetics Center, SCV002580083.1

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

Last Updated: Oct 15, 2022

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