NM_004999.4(MYO6):c.2639_2649delinsGAAATTAAGGTATGTAATTAAGGTATGT (p.Thr880_Ala883delinsArgAsnTer) AND Autosomal dominant nonsyndromic hearing loss 22

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 21, 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:: RCV002286503.1

Allele description [Variation Report for NM_004999.4(MYO6):c.2639_2649delinsGAAATTAAGGTATGTAATTAAGGTATGT (p.Thr880_Ala883delinsArgAsnTer)]

NM_004999.4(MYO6):c.2639_2649delinsGAAATTAAGGTATGTAATTAAGGTATGT (p.Thr880_Ala883delinsArgAsnTer)

Gene:

MYO6:myosin VI [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

6q14.1

Genomic location:

Preferred name:

NM_004999.4(MYO6):c.2639_2649delinsGAAATTAAGGTATGTAATTAAGGTATGT (p.Thr880_Ala883delinsArgAsnTer)

HGVS:

NC_000006.12:g.75886975_75886985delinsGAAATTAAGGTATGTAATTAAGGTATGT
NG_009934.2:g.142783_142793delinsGAAATTAAGGTATGTAATTAAGGTATGT
NM_001300899.2:c.2639_2649delinsGAAATTAAGGTATGTAATTAAGGTATGT
NM_001368136.1:c.2639_2649delinsGAAATTAAGGTATGTAATTAAGGTATGT
NM_001368137.1:c.2639_2649delinsGAAATTAAGGTATGTAATTAAGGTATGT
NM_001368138.1:c.2624_2634delinsGAAATTAAGGTATGTAATTAAGGTATGT
NM_001368865.1:c.2639_2649delinsGAAATTAAGGTATGTAATTAAGGTATGT
NM_001368866.1:c.2639_2649delinsGAAATTAAGGTATGTAATTAAGGTATGT
NM_004999.4:c.2639_2649delinsGAAATTAAGGTATGTAATTAAGGTATGTMANE SELECT
NP_001287828.1:p.Thr880_Ala883delinsArgAsnTer
NP_001355065.1:p.Thr880_Ala883delinsArgAsnTer
NP_001355066.1:p.Thr880_Ala883delinsArgAsnTer
NP_001355067.1:p.Thr875_Ala878delinsArgAsnTer
NP_001355794.1:p.Thr880_Ala883delinsArgAsnTer
NP_001355795.1:p.Thr880_Ala883delinsArgAsnTer
NP_004990.3:p.Thr880_Ala883delinsArgAsnTer
LRG_438t1:c.2639_2649delinsGAAATTAAGGTATGTAATTAAGGTATGT
LRG_438:g.142783_142793delinsGAAATTAAGGTATGTAATTAAGGTATGT
LRG_438p1:p.Thr880_Ala883delinsArgAsnTer
NC_000006.11:g.76596692_76596702delinsGAAATTAAGGTATGTAATTAAGGTATGT
NR_160538.1:n.2964_2974delinsGAAATTAAGGTATGTAATTAAGGTATGT

Molecular consequence:

NR_160538.1:n.2964_2974delinsGAAATTAAGGTATGTAATTAAGGTATGT - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001300899.2:c.2639_2649delinsGAAATTAAGGTATGTAATTAAGGTATGT - nonsense - [Sequence Ontology: SO:0001587]
NM_001368136.1:c.2639_2649delinsGAAATTAAGGTATGTAATTAAGGTATGT - nonsense - [Sequence Ontology: SO:0001587]
NM_001368137.1:c.2639_2649delinsGAAATTAAGGTATGTAATTAAGGTATGT - nonsense - [Sequence Ontology: SO:0001587]
NM_001368138.1:c.2624_2634delinsGAAATTAAGGTATGTAATTAAGGTATGT - nonsense - [Sequence Ontology: SO:0001587]
NM_001368865.1:c.2639_2649delinsGAAATTAAGGTATGTAATTAAGGTATGT - nonsense - [Sequence Ontology: SO:0001587]
NM_001368866.1:c.2639_2649delinsGAAATTAAGGTATGTAATTAAGGTATGT - nonsense - [Sequence Ontology: SO:0001587]
NM_004999.4:c.2639_2649delinsGAAATTAAGGTATGTAATTAAGGTATGT - nonsense - [Sequence Ontology: SO:0001587]

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
SCV002576477	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Sep 21, 2022)	paternal	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

SCV002576477

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Sep 21, 2022)

paternal

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	paternal	yes	not provided	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 Institute of Human Genetics, University of Leipzig Medical Center, SCV002576477.1

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

Description

_x000D_ Criteria applied: PVS1, PM2_SUP

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

Last Updated: Oct 8, 2022

ClinVar

Relating variation to medicine