NM_001349884.2(DRAM2):c.61GCT[1] (p.Ala22del) AND Retinal dystrophy

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 2014
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:: RCV000172833.1

Allele description

NM_001349884.2(DRAM2):c.61GCT[1] (p.Ala22del)

Gene:

DRAM2:DNA damage regulated autophagy modulator 2 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

1p13.3

Genomic location:

Preferred name:

NM_001349884.2(DRAM2):c.61GCT[1] (p.Ala22del)

HGVS:

NC_000001.11:g.111131491CAG[1]
NG_053089.1:g.13723GCT[1]
NM_001349881.2:c.61GCT[1]
NM_001349882.2:c.61GCT[1]
NM_001349884.2:c.61GCT[1]MANE SELECT
NM_001349885.2:c.61GCT[1]
NM_001349886.2:c.-98GCT[1]
NM_001349887.2:c.-98GCT[1]
NM_001349888.2:c.-98GCT[1]
NM_001349889.2:c.-190GCT[1]
NM_001349890.2:c.-190GCT[1]
NM_001349891.2:c.-358GCT[1]
NM_001349892.2:c.-190GCT[1]
NM_001349893.2:c.-190GCT[1]
NM_178454.6:c.61GCT[1]
NP_001336810.1:p.Ala22del
NP_001336811.1:p.Ala22del
NP_001336813.1:p.Ala22del
NP_001336814.1:p.Ala22del
NP_848549.3:p.Ala22del
NC_000001.10:g.111674113CAG[1]
NM_178454.4:c.64_66delGCT
NR_146301.2:n.195GCT[1]
NR_146302.2:n.195GCT[1]
NR_146303.2:n.406GCT[1]
NR_146304.2:n.406GCT[1]
NR_146305.2:n.361GCT[1]
NR_146306.2:n.361GCT[1]
NR_146307.2:n.406GCT[1]
NR_146308.2:n.361GCT[1]

Protein change:

A22del

Links:

OMIM: 613360.0004; dbSNP: rs786205661

NCBI 1000 Genomes Browser:

rs786205661

Molecular consequence:

NM_001349886.2:c.-98GCT[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001349887.2:c.-98GCT[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001349888.2:c.-98GCT[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001349889.2:c.-190GCT[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001349890.2:c.-190GCT[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001349891.2:c.-358GCT[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001349892.2:c.-190GCT[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001349893.2:c.-190GCT[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001349881.2:c.61GCT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001349882.2:c.61GCT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001349884.2:c.61GCT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001349885.2:c.61GCT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_178454.6:c.61GCT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NR_146301.2:n.195GCT[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146302.2:n.195GCT[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146303.2:n.406GCT[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146304.2:n.406GCT[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146305.2:n.361GCT[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146306.2:n.361GCT[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146307.2:n.406GCT[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146308.2:n.361GCT[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000222244	Leeds Vision Research Group, University of Leeds	criteria provided, single submitter (Submitter's publication)	Pathogenic (Nov 1, 2014)	germline	reference population	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000222244

Leeds Vision Research Group, University of Leeds

criteria provided, single submitter

(Submitter's publication)

Pathogenic
(Nov 1, 2014)

germline

reference population

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	1	not provided	not provided	yes	reference population

Citations

PubMed

Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.

El-Asrag ME, Sergouniotis PI, McKibbin M, Plagnol V, Sheridan E, Waseem N, Abdelhamed Z, McKeefry D, Van Schil K, Poulter JA; UK Inherited Retinal Disease Consortium., Johnson CA, Carr IM, Leroy BP, De Baere E, Inglehearn CF, Webster AR, Toomes C, Ali M.

Am J Hum Genet. 2015 Jun 4;96(6):948-54. doi: 10.1016/j.ajhg.2015.04.006. Epub 2015 May 14.

PubMed [citation]

PMID:: 25983245
PMCID:: PMC4457961

Details of each submission

From Leeds Vision Research Group, University of Leeds, SCV000222244.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	yes	reference population	PubMed (1)

#	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		1	not provided	1	not provided

Last Updated: Aug 13, 2023

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