NM_000260.4(MYO7A):c.4837_4839dup (p.Asp1613dup) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 3, 2017
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:: RCV000664883.1

Allele description [Variation Report for NM_000260.4(MYO7A):c.4837_4839dup (p.Asp1613dup)]

NM_000260.4(MYO7A):c.4837_4839dup (p.Asp1613dup)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

11q13.5

Genomic location:

Preferred name:

NM_000260.4(MYO7A):c.4837_4839dup (p.Asp1613dup)

HGVS:

NC_000011.10:g.77199803_77199805dup
NG_009086.2:g.76558_76560dup
NM_000260.4:c.4837_4839dupMANE SELECT
NM_001127180.2:c.4723_4725dup
NM_001369365.1:c.4690_4692dup
NP_000251.3:p.Asp1613dup
NP_001120652.1:p.Asp1575dup
NP_001356294.1:p.Asp1564dup
LRG_1420t1:c.4837_4839dup
LRG_1420:g.76558_76560dup
LRG_1420p1:p.Asp1613dup
NC_000011.9:g.76910847_76910848insGAT
NC_000011.9:g.76910848_76910850dup
NG_009086.1:g.76539_76541dup
NM_000260.3:c.4837_4839dupGAT

Links:

dbSNP: rs1555100610

NCBI 1000 Genomes Browser:

rs1555100610

Molecular consequence:

NM_000260.4:c.4837_4839dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001127180.2:c.4723_4725dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001369365.1:c.4690_4692dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:: Autosomal recessive nonsyndromic hearing loss 2
Synonyms:: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2; Deafness, autosomal recessive 2
Identifiers:: MONDO: MONDO:0010807; MedGen: C1838701; Orphanet: 90636; OMIM: 600060

Name:: Usher syndrome type 1 (USH1)
Synonyms:: Usher syndrome, type I, French variety; Retinitis pigmentosa and congenital deafness
Identifiers:: MONDO: MONDO:0010168; MedGen: C1568247; Orphanet: 231169; Orphanet: 886; OMIM: 276900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000788908	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Jan 3, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000788908

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Jan 3, 2017)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000788908.1

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

Last Updated: Feb 7, 2023

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