NM_206933.4(USH2A):c.12299ACA[1] (p.Asn4101del) AND Retinal dystrophy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 23, 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:: RCV001073413.2

Allele description [Variation Report for NM_206933.4(USH2A):c.12299ACA[1] (p.Asn4101del)]

NM_206933.4(USH2A):c.12299ACA[1] (p.Asn4101del)

Gene:

USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.12299ACA[1] (p.Asn4101del)

HGVS:

NC_000001.11:g.215675607TGT[1]
NC_000001.11:g.215675607_215675609TGT[1]
NG_009497.2:g.752837ACA[1]
NM_206933.4:c.12299ACA[1]MANE SELECT
NP_996816.3:p.Asn4101del
NC_000001.10:g.215848949TGT[1]
NC_000001.10:g.215848949_215848951del
NG_009497.1:g.752785ACA[1]
NM_206933.2:c.12302_12304del

Protein change:

N4101del

Links:

dbSNP: rs1657997491

NCBI 1000 Genomes Browser:

rs1657997491

Molecular consequence:

NM_206933.4:c.12299ACA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

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

Recent activity

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fiber protein [Human adenovirus E4]
fiber protein [Human adenovirus E4]
gi|1756480470|gb|QFF92318.1|

Protein
penton protein [Human adenovirus E4]
penton protein [Human adenovirus E4]
gi|1756480453|gb|QFF92301.1|

Protein
Colletotrichum fructicola isolate PLY-6-1 calmodulin (CAL) gene, partial cds
Colletotrichum fructicola isolate PLY-6-1 calmodulin (CAL) gene, partial cds
gi|2161158909|gb|MW046766.1|

Nucleotide
Colletotrichum fructicola isolate PLY-11-1A calmodulin (CAL) gene, partial cds
Colletotrichum fructicola isolate PLY-11-1A calmodulin (CAL) gene, partial cds
gi|2161158917|gb|MW046770.1|

Nucleotide
Mus musculus LUC7-like 3 (S. cerevisiae) (Luc7l3), transcript variant 3, mRNA
Mus musculus LUC7-like 3 (S. cerevisiae) (Luc7l3), transcript variant 3, mRNA
gi|1371977099|ref|NM_001361574.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001238954	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Uncertain significance (Jan 23, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001238954

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Uncertain significance
(Jan 23, 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, SCV001238954.1

#	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: Sep 29, 2024

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