NM_000260.4(MYO7A):c.850-3C>G AND Retinal dystrophy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 19, 2019
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:: RCV001075732.2

Allele description [Variation Report for NM_000260.4(MYO7A):c.850-3C>G]

NM_000260.4(MYO7A):c.850-3C>G

Gene:

MYO7A:myosin VIIA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.5

Genomic location:

Preferred name:

NM_000260.4(MYO7A):c.850-3C>G

HGVS:

NC_000011.10:g.77158274C>G
NG_009086.2:g.35029C>G
NM_000260.4:c.850-3C>GMANE SELECT
NM_001127180.2:c.850-3C>G
NM_001369365.1:c.817-3C>G
LRG_1420t1:c.850-3C>G
LRG_1420:g.35029C>G
NC_000011.9:g.76869320C>G
NG_009086.1:g.35011C>G
NM_000260.3:c.850-3C>G

Links:

dbSNP: rs1187661885

NCBI 1000 Genomes Browser:

rs1187661885

Molecular consequence:

NM_000260.4:c.850-3C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001127180.2:c.850-3C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001369365.1:c.817-3C>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Retinal dystrophy
Synonyms:: Inherited retinal dystrophy
Identifiers:: MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

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Garin1b golgi associated RAB2 interactor 1B [Mus musculus]
Garin1b golgi associated RAB2 interactor 1B [Mus musculus]
Gene ID:330277

Gene
330277[uid] AND (alive[prop]) (1)
Gene
Chromosome neighbors for GEO Profiles (Select 88430488) (19)
GEO Profiles
Related DataSets for GEO Profiles (Select 88430488) (1)
GEO DataSets
Unresectable colorectal cancer primary or metastatic lesions: training set
Unresectable colorectal cancer primary or metastatic lesions: training set
Accession: GDS4393

GEO DataSets

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001241361	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Uncertain significance (May 19, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001241361

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Uncertain significance
(May 19, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV001241361.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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