NM_000260.4(MYO7A):c.2070dup (p.Gly691fs) AND Auditory neuropathy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 22, 2023
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:: RCV003484480.1

Allele description [Variation Report for NM_000260.4(MYO7A):c.2070dup (p.Gly691fs)]

NM_000260.4(MYO7A):c.2070dup (p.Gly691fs)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

11q13.5

Genomic location:

Preferred name:

NM_000260.4(MYO7A):c.2070dup (p.Gly691fs)

HGVS:

NC_000011.10:g.77174890dup
NG_009086.2:g.51645dup
NM_000260.4:c.2070dupMANE SELECT
NM_001127180.2:c.2070dup
NM_001369365.1:c.2037dup
NP_000251.3:p.Gly691fs
NP_001120652.1:p.Gly691fs
NP_001356294.1:p.Gly680fs
LRG_1420t1:c.2070dup
LRG_1420:g.51645dup
LRG_1420p1:p.Gly691fs
NC_000011.9:g.76885936dup
NM_000260.4:c.2070_2071insAMANE SELECT

Protein change:

G680fs

Molecular consequence:

NM_000260.4:c.2070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127180.2:c.2070dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369365.1:c.2037dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Auditory neuropathy
Synonyms:: Auditory dys-synchrony
Identifiers:: MONDO: MONDO:0021944; MedGen: C1852271; OMIM: PS609129

Recent activity

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Danio rerio aspartate dehydrogenase domain containing (aspdh), mRNA
Danio rerio aspartate dehydrogenase domain containing (aspdh), mRNA
gi|52219145|ref|NM_001004657.1|

Nucleotide
PREDICTED: Homo sapiens tudor domain containing 12 (TDRD12), transcript variant ...
PREDICTED: Homo sapiens tudor domain containing 12 (TDRD12), transcript variant X9, mRNA
gi|2217323822|ref|XM_011527476.3|

Nucleotide
Danio rerio microRNA 301c (mir301c), microRNA
Danio rerio microRNA 301c (mir301c), microRNA
gi|262206249|ref|NR_030127.1|

Nucleotide
ENSSHAP00000015017 (0)
Protein
Cavia porcellus strain inbred line 2N voucher Broad:Sequencing.Sample:289.1, Bro...
Cavia porcellus strain inbred line 2N voucher Broad:Sequencing.Sample:289.1, Broad Institute, Cambridge, MA cont2.12476, whole genome shotgun sequence
gi|168120792|gnl|WGS:AAKN|cont2.124 |AAKN02012477.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004229013	WangQJ Lab, Chinese People's Liberation Army General Hospital	criteria provided, single submitter (Submitter's publication)	Pathogenic (Dec 22, 2023)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004229013

WangQJ Lab, Chinese People's Liberation Army General Hospital

criteria provided, single submitter

(Submitter's publication)

Pathogenic
(Dec 22, 2023)

germline

research

Help

Summary from all submissions

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

Details of each submission

From WangQJ Lab, Chinese People's Liberation Army General Hospital, SCV004229013.1

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

#	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: Feb 4, 2024

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