NM_000642.3(AGL):c.1235A>G (p.His412Arg) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 15, 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:: RCV004035122.1

Allele description [Variation Report for NM_000642.3(AGL):c.1235A>G (p.His412Arg)]

NM_000642.3(AGL):c.1235A>G (p.His412Arg)

Gene:

AGL:amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p21.2

Genomic location:

Preferred name:

NM_000642.3(AGL):c.1235A>G (p.His412Arg)

HGVS:

NC_000001.11:g.99875407A>G
NG_012865.1:g.30324A>G
NM_000028.3:c.1235A>G
NM_000642.3:c.1235A>GMANE SELECT
NM_000643.3:c.1235A>G
NM_000644.3:c.1235A>G
NM_000646.3:c.1187A>G
NM_001425325.1:c.1235A>G
NM_001425326.1:c.1235A>G
NM_001425328.1:c.1031A>G
NM_001425329.1:c.1031A>G
NM_001425332.1:c.857A>G
NP_000019.2:p.His412Arg
NP_000019.2:p.His412Arg
NP_000633.2:p.His412Arg
NP_000634.2:p.His412Arg
NP_000634.2:p.His412Arg
NP_000635.2:p.His412Arg
NP_000635.2:p.His412Arg
NP_000637.2:p.His396Arg
NP_000637.2:p.His396Arg
NP_001412254.1:p.His412Arg
NP_001412255.1:p.His412Arg
NP_001412257.1:p.His344Arg
NP_001412258.1:p.His344Arg
NP_001412261.1:p.His286Arg
NC_000001.10:g.100340963A>G
NM_000028.2:c.1235A>G
NM_000642.2:c.1235A>G
NM_000643.2:c.1235A>G
NM_000644.2:c.1235A>G
NM_000646.2:c.1187A>G

Protein change:

H286R

Links:

dbSNP: rs762046235

NCBI 1000 Genomes Browser:

rs762046235

Molecular consequence:

NM_000028.3:c.1235A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_000642.3:c.1235A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_000643.3:c.1235A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_000644.3:c.1235A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_000646.3:c.1187A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001425325.1:c.1235A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001425326.1:c.1235A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001425328.1:c.1031A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001425329.1:c.1031A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001425332.1:c.857A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

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complement C5 isoform 1 preproprotein [Homo sapiens]
complement C5 isoform 1 preproprotein [Homo sapiens]
gi|38016947|ref|NP_001726.2|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004871184	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 15, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004871184

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 15, 2023)

germline

clinical testing

Citation Link

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

Details of each submission

From Ambry Genetics, SCV004871184.1

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

Description

The c.1235A>G (p.H412R) alteration is located in exon 10 (coding exon 9) of the AGL gene. This alteration results from a A to G substitution at nucleotide position 1235, causing the histidine (H) at amino acid position 412 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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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