NM_000045.4(ARG1):c.131-8_131-2del AND Arginase deficiency

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 8, 2023
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:: RCV003463465.1

Allele description [Variation Report for NM_000045.4(ARG1):c.131-8_131-2del]

NM_000045.4(ARG1):c.131-8_131-2del

Genes:

ARG1:arginase 1 [Gene - OMIM - HGNC]
MED23:mediator complex subunit 23 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6q23.2

Genomic location:

Preferred name:

NM_000045.4(ARG1):c.131-8_131-2del

HGVS:

NC_000006.12:g.131579103_131579109del
NG_007086.2:g.10879_10885del
NG_031860.2:g.54115_54121del
NM_000045.4:c.131-8_131-2delMANE SELECT
NM_001244438.2:c.147_153del
NM_001270521.2:c.4078-4814_4078-4808del
NM_001369020.1:c.131-8_131-2del
NM_015979.4:c.4096-4814_4096-4808del
NP_001231367.1:p.Ile50fs
NC_000006.11:g.131900243_131900249del

Protein change:

I50fs

Molecular consequence:

NM_001244438.2:c.147_153del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001270521.2:c.4078-4814_4078-4808del - intron variant - [Sequence Ontology: SO:0001627]
NM_015979.4:c.4096-4814_4096-4808del - intron variant - [Sequence Ontology: SO:0001627]
NM_000045.4:c.131-8_131-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001369020.1:c.131-8_131-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:: Arginase deficiency
Synonyms:: ARG1 deficiency; Argininemia
Identifiers:: MONDO: MONDO:0008814; MedGen: C0268548; Orphanet: 90; OMIM: 207800

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004208437	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Aug 8, 2023)	unknown	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

SCV004208437

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Aug 8, 2023)

unknown

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

Citations

PubMed

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 Baylor Genetics, SCV004208437.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 30, 2024

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