NM_001142459.2(ASB10):c.872A>G (p.Asp291Gly) AND not provided

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

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 9, 2022
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:: RCV001988087.3

Allele description

NM_001142459.2(ASB10):c.872A>G (p.Asp291Gly)

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.872A>G (p.Asp291Gly)

HGVS:

NC_000007.14:g.151181171T>C
NG_017016.1:g.11662A>G
NM_001142459.2:c.872A>GMANE SELECT
NM_001142460.1:c.872A>G
NM_080871.4:c.827A>G
NP_001135931.2:p.Asp291Gly
NP_001135932.2:p.Asp291Gly
NP_543147.2:p.Asp276Gly
NC_000007.13:g.150878258T>C

Protein change:

D276G

Links:

dbSNP: rs781304410

NCBI 1000 Genomes Browser:

rs781304410

Molecular consequence:

NM_001142459.2:c.872A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001142460.1:c.872A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_080871.4:c.827A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002227170	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Mar 9, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 22798626, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002227170

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Mar 9, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Analysis of ASB10 variants in open angle glaucoma.

Fingert JH, Roos BR, Solivan-Timpe F, Miller KA, Oetting TA, Wang K, Kwon YH, Scheetz TE, Stone EM, Alward WL.

Hum Mol Genet. 2012 Oct 15;21(20):4543-8. Epub 2012 Jul 13.

PubMed [citation]

PMID:: 22798626
PMCID:: PMC3459468

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV002227170.3

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35"). This variant is also known as Asp276Gly. This missense change has been observed in individual(s) with primary open angle glaucoma (PMID: 22798626). This variant is present in population databases (rs781304410, gnomAD 0.01%). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 291 of the ASB10 protein (p.Asp291Gly).

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

Last Updated: Feb 14, 2024

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