NM_000260.4(MYO7A):c.6628_6643del (p.Gly2210fs) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 6, 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:: RCV000669258.1

Allele description [Variation Report for NM_000260.4(MYO7A):c.6628_6643del (p.Gly2210fs)]

NM_000260.4(MYO7A):c.6628_6643del (p.Gly2210fs)

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11q13.5

Genomic location:

Preferred name:

NM_000260.4(MYO7A):c.6628_6643del (p.Gly2210fs)

HGVS:

NC_000011.10:g.77214676_77214691del
NG_009086.2:g.91431_91446del
NM_000260.4:c.6628_6643delMANE SELECT
NM_001127180.2:c.6508_6523del
NM_001369365.1:c.6481_6496del
NP_000251.3:p.Gly2210fs
NP_001120652.1:p.Gly2170fs
NP_001356294.1:p.Gly2161fs
LRG_1420t1:c.6628_6643del
LRG_1420:g.91431_91446del
LRG_1420p1:p.Gly2210fs
NC_000011.9:g.76925721_76925736del
NG_009086.1:g.91412_91427del
NM_000260.3:c.6628_6643del16

Protein change:

G2161fs

Links:

dbSNP: rs1555111501

NCBI 1000 Genomes Browser:

rs1555111501

Molecular consequence:

NM_000260.4:c.6628_6643del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127180.2:c.6508_6523del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369365.1:c.6481_6496del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000793993	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Sep 6, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000793993

Counsyl

criteria provided, single submitter

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

Uncertain significance
(Sep 6, 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, SCV000793993.1

#	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: Jun 17, 2024

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