NM_003816.3(ADAM9):c.1588_1591+10del AND Cone-rod dystrophy 9

Germline classification:: Pathogenic (1 submission)
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:: RCV001542474.2

Allele description [Variation Report for NM_003816.3(ADAM9):c.1588_1591+10del]

NM_003816.3(ADAM9):c.1588_1591+10del

Gene:

ADAM9:ADAM metallopeptidase domain 9 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

8p11.22

Genomic location:

Preferred name:

NM_003816.3(ADAM9):c.1588_1591+10del

HGVS:

NC_000008.11:g.39055769_39055782del
NG_016335.1:g.63784_63797del
NM_003816.3:c.1588_1591+10delMANE SELECT
NC_000008.10:g.38913288_38913301del

Links:

dbSNP: rs2129438824

NCBI 1000 Genomes Browser:

rs2129438824

Molecular consequence:

NM_003816.3:c.1588_1591+10del - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001760213	Genomics England Pilot Project, Genomics England	no assertion criteria provided (ACGS Guidelines, 2016)	Pathogenic	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001760213

Genomics England Pilot Project, Genomics England

no assertion criteria provided

(ACGS Guidelines, 2016)

Pathogenic

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 Genomics England Pilot Project, Genomics England, SCV001760213.1

#	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: Dec 24, 2023

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