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NM_003816.3(ADAM9):c.1130+1G>A AND Cone-rod dystrophy 9

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 2009
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000007279.3

Allele description [Variation Report for NM_003816.3(ADAM9):c.1130+1G>A]

NM_003816.3(ADAM9):c.1130+1G>A

Gene:
ADAM9:ADAM metallopeptidase domain 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p11.22
Genomic location:
Preferred name:
NM_003816.3(ADAM9):c.1130+1G>A
HGVS:
  • NC_000008.11:g.39026811G>A
  • NG_016335.1:g.34826G>A
  • NG_016335.2:g.34840G>A
  • NM_003816.3:c.1130+1G>AMANE SELECT
  • NC_000008.10:g.38884330G>A
  • NM_003816.2:c.1130+1G>A
Nucleotide change:
IVS11, G-A, +1
Links:
OMIM: 602713.0001; dbSNP: rs786205085
NCBI 1000 Genomes Browser:
rs786205085
Molecular consequence:
  • NM_003816.3:c.1130+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Cone-rod dystrophy 9 (CORD9)
Identifiers:
MONDO: MONDO:0013002; MedGen: C1423873; Orphanet: 1872; OMIM: 612775

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000027475OMIM
no assertion criteria provided
Pathogenic
(May 1, 2009) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene.

Danciger M, Hendrickson J, Lyon J, Toomes C, McHale JC, Fishman GA, Inglehearn CF, Jacobson SG, Farber DB.

Invest Ophthalmol Vis Sci. 2001 Oct;42(11):2458-65.

PubMed [citation]
PMID:
11581183

Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice.

Parry DA, Toomes C, Bida L, Danciger M, Towns KV, McKibbin M, Jacobson SG, Logan CV, Ali M, Bond J, Chance R, Swendeman S, Daniele LL, Springell K, Adams M, Johnson CA, Booth AP, Jafri H, Rashid Y, Banin E, Strom TM, Farber DB, et al.

Am J Hum Genet. 2009 May;84(5):683-91. doi: 10.1016/j.ajhg.2009.04.005. Epub 2009 Apr 30.

PubMed [citation]
PMID:
19409519
PMCID:
PMC2681008

Details of each submission

From OMIM, SCV000027475.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a large Brazilian family with autosomal recessive cone-rod dystrophy (CORD9; 612775), originally reported by Danciger et al. (2001), Parry et al. (2009) identified a homozygous G-to-A transition at the +1 position of intron 11 of the ADAM9 gene (1130+1G-A), abolishing the splice site. The mutation was present in homozygosity in all affected family members and was not found in any unaffected family members, nor in 190 ethnically matched control individuals.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 10, 2023