NM_001142459.2(ASB10):c.564C>A (p.Cys188Ter) AND Glaucoma 1, open angle, F

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Mar 15, 2012
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:: RCV000043657.3

Allele description [Variation Report for NM_001142459.2(ASB10):c.564C>A (p.Cys188Ter)]

NM_001142459.2(ASB10):c.564C>A (p.Cys188Ter)

Gene:

ASB10:ankyrin repeat and SOCS box containing 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q36.1

Genomic location:

Preferred name:

NM_001142459.2(ASB10):c.564C>A (p.Cys188Ter)

HGVS:

NC_000007.14:g.151186412G>T
NG_017016.1:g.6421C>A
NM_001142459.2:c.564C>AMANE SELECT
NM_001142460.1:c.564C>A
NM_080871.4:c.519C>A
NP_001135931.2:p.Cys188Ter
NP_001135932.2:p.Cys188Ter
NP_543147.2:p.Cys173Ter
NC_000007.13:g.150883499G>T
NM_080871.3:c.519C>A

Protein change:

C173*; CYS173TER

Links:

OMIM: 615054.0002; dbSNP: rs151344606

NCBI 1000 Genomes Browser:

rs151344606

Molecular consequence:

NM_001142459.2:c.564C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001142460.1:c.564C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_080871.4:c.519C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Glaucoma 1, open angle, F (GLC1F)
Identifiers:: MedGen: C1863926; OMIM: 603383

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000071679	OMIM	no assertion criteria provided	Pathogenic (Mar 15, 2012)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000118583	Casey Eye Institute Glaucoma Genetics Lab	no classification provided	not provided	not provided	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000071679

OMIM

no assertion criteria provided

Pathogenic
(Mar 15, 2012)

germline

literature only

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

SCV000118583

Casey Eye Institute Glaucoma Genetics Lab

no classification provided

not provided

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

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Variants in ASB10 are associated with open-angle glaucoma.

Pasutto F, Keller KE, Weisschuh N, Sticht H, Samples JR, Yang YF, Zenkel M, Schlötzer-Schrehardt U, Mardin CY, Frezzotti P, Edmunds B, Kramer PL, Gramer E, Reis A, Acott TS, Wirtz MK.

Hum Mol Genet. 2012 Mar 15;21(6):1336-49. doi: 10.1093/hmg/ddr572. Epub 2011 Dec 8.

PubMed [citation]

PMID:: 22156576
PMCID:: PMC3284122

GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36.

Wirtz MK, Samples JR, Rust K, Lie J, Nordling L, Schilling K, Acott TS, Kramer PL.

Arch Ophthalmol. 1999 Feb;117(2):237-41.

PubMed [citation]

PMID:: 10037570

Details of each submission

From OMIM, SCV000071679.1

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

Description

In a German patient with primary open angle glaucoma (GLC1F; 603383), Pasutto et al. (2012) identified heterozygosity for a 519C-A transversion in exon 2 of the ASB10 gene, resulting in a cys173-to-ter (C173X) substitution in the third ankyrin domain. The mutation was not found in 461 controls.

#	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

From Casey Eye Institute Glaucoma Genetics Lab , SCV000118583.1

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

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

Last Updated: Jan 15, 2023

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