NM_001379500.1(COL18A1):c.688dup (p.Gln230fs) AND Retinal dystrophy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 15, 2017
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:: RCV001074486.2

Allele description [Variation Report for NM_001379500.1(COL18A1):c.688dup (p.Gln230fs)]

NM_001379500.1(COL18A1):c.688dup (p.Gln230fs)

Gene:

COL18A1:collagen type XVIII alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

21q22.3

Genomic location:

Preferred name:

NM_001379500.1(COL18A1):c.688dup (p.Gln230fs)

Other names:

NM_130445.2:c.688dup

HGVS:

NC_000021.9:g.45473931dup
NG_011903.1:g.73749dup
NM_001379500.1:c.688dupMANE SELECT
NM_030582.4:c.1228dup
NM_130444.2:c.1933dupC
NM_130444.3:c.1933dup
NP_001366429.1:p.Gln230fs
NP_085059.2:p.Gln410fs
NP_569711.2:p.Gln645fs
NC_000021.8:g.46893840_46893841insC
NC_000021.8:g.46893845dup

Protein change:

Q230fs

Links:

dbSNP: rs756223600

NCBI 1000 Genomes Browser:

rs756223600

Molecular consequence:

NM_001379500.1:c.688dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_030582.4:c.1228dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_130444.3:c.1933dup - frameshift variant - [Sequence Ontology: SO:0001589]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001240073	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Likely pathogenic (Sep 15, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001240073

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Likely pathogenic
(Sep 15, 2017)

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, SCV001240073.1

#	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: Nov 30, 2024

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