NM_000260.4(MYO7A):c.117_132+6del AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 20, 2018
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:: RCV000672865.1

Allele description [Variation Report for NM_000260.4(MYO7A):c.117_132+6del]

NM_000260.4(MYO7A):c.117_132+6del

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11q13.5

Genomic location:

Preferred name:

NM_000260.4(MYO7A):c.117_132+6del

HGVS:

NC_000011.10:g.77142807_77142828del
NG_009086.1:g.19544_19565del
NG_009086.2:g.19562_19583del
NM_000260.4:c.117_132+6delMANE SELECT
NM_001127180.2:c.117_132+6del
NM_001369365.1:c.84_99+6del
LRG_1420t1:c.117_132+6del
LRG_1420:g.19562_19583del
NC_000011.9:g.76853853_76853874del
NM_000260.3:c.117_132+6del22

Links:

dbSNP: rs1555051567

NCBI 1000 Genomes Browser:

rs1555051567

Molecular consequence:

NM_000260.4:c.117_132+6del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001127180.2:c.117_132+6del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001369365.1:c.84_99+6del - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000798013	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Feb 20, 2018)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000798013

Counsyl

criteria provided, single submitter

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

Likely pathogenic
(Feb 20, 2018)

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, SCV000798013.1

#	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: Apr 23, 2022

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