NM_001097577.3(ANG):c.3G>A (p.Met1Ile) AND ANG-related disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 15, 2024
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003413785.7

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:: ANG-related disorder
Synonyms:: ANG-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004116503	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Uncertain significance (Feb 15, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004116503

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Uncertain significance
(Feb 15, 2024)

germline

clinical testing

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 PreventionGenetics, part of Exact Sciences, SCV004116503.3

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

Description

The ANG c.3G>A variant is predicted to disrupt the translation initiation site (Start Loss). This variant, which is located in the signal peptide region and has been previously described in the literature as Met-24Ile, has been reported in patients with sporadic amyotrophic lateral sclerosis (ALS), Parkinson disease/parkinsonism, or frontotemporal dementia (Conforti et al. 2008. PubMed ID: 17703939; Gellera et al. 2008. PubMed ID: 18087731; van Es et al. 2011. PubMed ID: 22190368; Marjanović et al. 2017. PubMed ID: 28444446; Ungaro et al. 2020. PubMed ID: 32951934). To our knowledge, functional studies have not been performed to better understand the biological relevance of this variant. This variant is reported in 0.097% of alleles in individuals of Ashkenazi Jewish descent, and 0.022% overall in gnomAD, which may be too common to be a primary cause of disease. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#	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: Oct 20, 2024

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