NM_001142459.2(ASB10):c.810C>T (p.Thr270=) 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:: RCV000043656.3

Allele description [Variation Report for NM_001142459.2(ASB10):c.810C>T (p.Thr270=)]

NM_001142459.2(ASB10):c.810C>T (p.Thr270=)

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.810C>T (p.Thr270=)

Other names:

ASB10, THR255THR (rs104886478); T255T

HGVS:

NC_000007.14:g.151181233G>A
NG_017016.1:g.11600C>T
NM_001142459.2:c.810C>TMANE SELECT
NM_001142460.1:c.810C>T
NM_080871.4:c.765C>T
NP_001135931.2:p.Thr270=
NP_001135932.2:p.Thr270=
NP_543147.2:p.Thr255=
NC_000007.13:g.150878320G>A
NM_080871.3:c.765C>T

Protein change:

THR255THR

Links:

OMIM: 615054.0001; dbSNP: rs104886478

NCBI 1000 Genomes Browser:

rs104886478

Molecular consequence:

NM_001142459.2:c.810C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001142460.1:c.810C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_080871.4:c.765C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Functional consequence:

effect on RNA splicing [PubMedVariation Ontology: 0362]

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
SCV000071678	OMIM	no assertion criteria provided	Pathogenic (Mar 15, 2012)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 10037570, 22156576
SCV000118562	Casey Eye Institute Glaucoma Genetics Lab	no classification provided	not provided	somatic	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

SCV000071678

OMIM

no assertion criteria provided

Pathogenic
(Mar 15, 2012)

germline

literature only

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

SCV000118562

Casey Eye Institute Glaucoma Genetics Lab

no classification provided

not provided

somatic

not provided

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
not provided	somatic	not provided	not provided	not provided	not provided	1	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, SCV000071678.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In affected members of a large 4-generation family with adult-onset primary open angle glaucoma (GLC1F; 603383), originally reported by Wirtz et al. (1999), Pasutto et al. (2012) identified heterozygosity for a c.765C-T transition in exon 3 of the ASB10 gene, resulting in a thr255-to-thr (T255T; rs104886478) substitution in the fifth ankyrin domain. The mutation was not found in unaffected family members or 461 controls, or in the HapMap or dbSNP databases or the 1000 Genomes Project database. Analysis of patient mRNA revealed that exon 3 was absent, which altered the reading frame and introduced a stop codon in exon 4 that was predicted to result in a protein product containing only 2 of 7 ankyrin repeats and lacking the SOCS box. The T255T mutation was also identified in a German patient with primary open angle glaucoma.

#	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 , SCV000118562.1

#	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	somatic	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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