NM_001097577.3(ANG):c.3G>A (p.Met1Ile) AND Amyotrophic lateral sclerosis type 10

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 21, 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:: RCV002463771.2

Allele description [Variation Report for NM_001097577.3(ANG):c.3G>A (p.Met1Ile)]

NM_001097577.3(ANG):c.3G>A (p.Met1Ile)

Genes:

EGILA:EGFR interacting lncRNA [Gene - HGNC]
ANG:angiogenin [Gene - OMIM - HGNC]
RNASE4:ribonuclease A family member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

Preferred name:

NM_001097577.3(ANG):c.3G>A (p.Met1Ile)

HGVS:

NC_000014.9:g.20693567G>A
NG_008717.2:g.14391G>A
NG_033053.1:g.14355G>A
NM_001097577.3:c.3G>AMANE SELECT
NM_001145.4:c.3G>A
NM_001282192.2:c.-101G>A
NM_001282193.2:c.-17-5788G>A
NM_001385271.1:c.3G>A
NM_001385272.1:c.3G>A
NM_001385273.1:c.3G>A
NM_001385274.1:c.3G>A
NM_002937.5:c.-17-5788G>AMANE SELECT
NM_194431.3:c.-18+4693G>A
NP_001091046.1:p.Met1Ile
NP_001136.1:p.Met1Ile
NP_001372200.1:p.Met1Ile
NP_001372201.1:p.Met1Ile
NP_001372202.1:p.Met1Ile
NP_001372203.1:p.Met1Ile
LRG_653t1:c.3G>A
LRG_653:g.14391G>A
LRG_653p1:p.Met1Ile
NC_000014.8:g.21161726G>A
NC_000014.8:g.21161726G>A
NR_174964.1:n.649C>T

Protein change:

M1I

Links:

dbSNP: rs201068740

NCBI 1000 Genomes Browser:

rs201068740

Molecular consequence:

NM_001282192.2:c.-101G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001097577.3:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001145.4:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001385271.1:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001385272.1:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001385273.1:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001385274.1:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001282193.2:c.-17-5788G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_002937.5:c.-17-5788G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_194431.3:c.-18+4693G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001097577.3:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001145.4:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385271.1:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385272.1:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385273.1:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385274.1:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_174964.1:n.649C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Amyotrophic lateral sclerosis type 10 (ALS10)
Synonyms:: AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; TARDBP-Related Amyotrophic Lateral Sclerosis; AMYOTROPHIC LATERAL SCLEROSIS 10 WITHOUT FRONTOTEMPORAL DEMENTIA AND WITH TDP43 INCLUSIONS; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0012790; MedGen: C2677565; Orphanet: 275872; Orphanet: 803; OMIM: 612069

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002758563	Human Genetics Bochum, Ruhr University Bochum	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 21, 2022)	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

SCV002758563

Human Genetics Bochum, Ruhr University Bochum

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 21, 2022)

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	yes	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 Human Genetics Bochum, Ruhr University Bochum, SCV002758563.2

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

Description

ACMG criteria used to clasify this variant: PVS1, PM2

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

Last Updated: May 25, 2025

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