NM_000260.4(MYO7A):c.1401_1403dup (p.Arg467_His468insGln) AND Usher syndrome type 1B

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 20, 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:: RCV001831627.1

Allele description [Variation Report for NM_000260.4(MYO7A):c.1401_1403dup (p.Arg467_His468insGln)]

NM_000260.4(MYO7A):c.1401_1403dup (p.Arg467_His468insGln)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

11q13.5

Genomic location:

Preferred name:

NM_000260.4(MYO7A):c.1401_1403dup (p.Arg467_His468insGln)

HGVS:

NC_000011.10:g.77162177_77162179dup
NG_009086.2:g.38932_38934dup
NM_000260.4:c.1401_1403dupMANE SELECT
NM_001127180.2:c.1401_1403dup
NM_001369365.1:c.1368_1370dup
NP_000251.3:p.Arg467_His468insGln
NP_001120652.1:p.Arg467_His468insGln
NP_001356294.1:p.Arg456_His457insGln
LRG_1420t1:c.1401_1403dup
LRG_1420:g.38932_38934dup
LRG_1420p1:p.Arg467_His468insGln
NC_000011.9:g.76873222_76873223insGCA
NC_000011.9:g.76873223_76873225dup
NM_000260.3:c.1403_1404insGCA
NM_000260.3:c.1403_1404insGCA
NM_000260.4:c.1401_1403dupGCAMANE SELECT
c.1403_1404insGCA

Links:

dbSNP: rs111033219

NCBI 1000 Genomes Browser:

rs111033219

Molecular consequence:

NM_000260.4:c.1401_1403dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001127180.2:c.1401_1403dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001369365.1:c.1368_1370dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:: Usher syndrome type 1B (USH1B)
Synonyms:: Usher syndrome type IB
Identifiers:: MONDO: MONDO:0700087; MedGen: C2931206

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002086576	Natera, Inc.	no assertion criteria provided	Uncertain significance (Jul 20, 2021)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002086576

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Jul 20, 2021)

germline

clinical testing

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 Natera, Inc., SCV002086576.1

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

Last Updated: Jul 15, 2024

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