NM_001267727.2(ARSG):c.130G>A (p.Asp44Asn) AND Usher syndrome, type 4

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 4, 2024
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:: RCV001375495.3

Allele description [Variation Report for NM_001267727.2(ARSG):c.130G>A (p.Asp44Asn)]

NM_001267727.2(ARSG):c.130G>A (p.Asp44Asn)

Gene:

ARSG:arylsulfatase G [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q24.2

Genomic location:

Preferred name:

NM_001267727.2(ARSG):c.130G>A (p.Asp44Asn)

Other names:

ARSG, ASP44ASN (rs199566950)

HGVS:

NC_000017.11:g.68307623G>A
NG_032814.2:g.53535G>A
NM_001267727.2:c.130G>AMANE SELECT
NM_001352899.2:c.130G>A
NM_001352900.2:c.130G>A
NM_001352901.2:c.130G>A
NM_001352902.2:c.130G>A
NM_001352903.2:c.130G>A
NM_001352904.2:c.130G>A
NM_001352905.2:c.130G>A
NM_001352906.2:c.130G>A
NM_001352907.2:c.130G>A
NM_001352909.2:c.130G>A
NM_001352910.2:c.130G>A
NM_014960.5:c.130G>A
NP_001254656.1:p.Asp44Asn
NP_001339828.1:p.Asp44Asn
NP_001339829.1:p.Asp44Asn
NP_001339830.1:p.Asp44Asn
NP_001339831.1:p.Asp44Asn
NP_001339832.1:p.Asp44Asn
NP_001339833.1:p.Asp44Asn
NP_001339834.1:p.Asp44Asn
NP_001339835.1:p.Asp44Asn
NP_001339836.1:p.Asp44Asn
NP_001339838.1:p.Asp44Asn
NP_001339839.1:p.Asp44Asn
NP_055775.2:p.Asp44Asn
NC_000017.10:g.66303764G>A
NM_014960.4:c.130G>A

Protein change:

D44N; ASP44ASN

Links:

OMIM: 610008.0002; dbSNP: rs199566950

NCBI 1000 Genomes Browser:

rs199566950

Molecular consequence:

NM_001267727.2:c.130G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352899.2:c.130G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352900.2:c.130G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352901.2:c.130G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352902.2:c.130G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352903.2:c.130G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352904.2:c.130G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352905.2:c.130G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352906.2:c.130G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352907.2:c.130G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352909.2:c.130G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352910.2:c.130G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_014960.5:c.130G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Usher syndrome, type 4
Synonyms:: USHER SYNDROME, TYPE IV
Identifiers:: MONDO: MONDO:0029141; MedGen: C4748364; OMIM: 618144

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001572336	OMIM	no assertion criteria provided	Pathogenic (Apr 26, 2021)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV004809905	Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 4, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001572336

OMIM

no assertion criteria provided

Pathogenic
(Apr 26, 2021)

germline

literature only

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

SCV004809905

Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 4, 2024)

germline

clinical testing

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Identification of a novel homozygous ARSG mutation as the second cause of Usher syndrome type 4.

Abad-Morales V, Navarro R, Burés-Jelstrup A, Pomares E.

Am J Ophthalmol Case Rep. 2020 Sep;19:100736. doi: 10.1016/j.ajoc.2020.100736.

PubMed [citation]

PMID:: 32455177
PMCID:: PMC7235610

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From OMIM, SCV001572336.1

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

Description

In a 44-year-old Spanish patient with Usher syndrome type IV (USH4; 618144), Abad-Morales et al. (2020) identified a homozygous c.130G-A transition (c.130G-A, NM_014960.4) in the ARSG gene, resulting in an asp44-to-asn (D44N) substitution at a highly conserved residue. The mutation was identified by whole-exome sequencing and confirmed by Sanger sequencing. The mutation was present in the ExAC database at a minor allele frequency of 0.00002 and was not found in an in-house cohort of 261 control individuals. Functional studies were not performed.

#	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 Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV004809905.1

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

#	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: Sep 29, 2024

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