NM_000494.3(COL17A1):c.2816C>T (p.Thr939Ile) AND Epithelial recurrent erosion dystrophy

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 1, 2015
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:: RCV000190896.2

Allele description

NM_000494.3(COL17A1):c.2816C>T (p.Thr939Ile)

Gene:

COL17A1:collagen type XVII alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q25.1

Genomic location:

Preferred name:

NM_000494.3(COL17A1):c.2816C>T (p.Thr939Ile)

HGVS:

NC_000010.11:g.104039613G>A
NG_007069.1:g.51268C>T
NM_000494.3:c.2816C>T
NP_000485.3:p.Thr939Ile
NC_000010.10:g.105799371G>A
Q9UMD9:p.Thr939Ile

Protein change:

T939I; THR939ILE

Links:

UniProtKB: Q9UMD9#VAR_074627; OMIM: 113811.0015; dbSNP: rs797045142

NCBI 1000 Genomes Browser:

rs797045142

Molecular consequence:

NM_000494.3:c.2816C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Epithelial recurrent erosion dystrophy (ERED)
Synonyms:: CORNEAL EROSIONS, RECURRING HEREDITARY
Identifiers:: MedGen: C1852551; Orphanet: 293381; OMIM: 122400
Age of onset:: Childhood

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000245770	OMIM	no assertion criteria provided	Pathogenic (Apr 1, 2015)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000245770

OMIM

no assertion criteria provided

Pathogenic
(Apr 1, 2015)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED).

Jonsson F, Byström B, Davidson AE, Backman LJ, Kellgren TG, Tuft SJ, Koskela T, Rydén P, Sandgren O, Danielson P, Hardcastle AJ, Golovleva I.

Hum Mutat. 2015 Apr;36(4):463-73. doi: 10.1002/humu.22764.

PubMed [citation]

PMID:: 25676728

Details of each submission

From OMIM, SCV000245770.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 35 affected members of an extended Swedish pedigree with epithelial recurrent erosion dystrophy (ERED; 122400), Jonsson et al. (2015) identified heterozygosity for a c.2816C-T transition (c.2816C-T, NM_000494.3) in the COL17A1 gene, resulting in a thr939-to-ile (T939I) substitution. The mutation was not found in 9 unaffected family members, in 139 ethnically matched controls, or in the Exome Sequencing Project database.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 7, 2017

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