NM_001097577.3(ANG):c.379G>A (p.Val127Ile) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 27, 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:: RCV002685807.3

Allele description [Variation Report for NM_001097577.3(ANG):c.379G>A (p.Val127Ile)]

NM_001097577.3(ANG):c.379G>A (p.Val127Ile)

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.379G>A (p.Val127Ile)

HGVS:

NC_000014.9:g.20693943G>A
NG_008717.2:g.14767G>A
NG_033053.1:g.14731G>A
NM_001097577.3:c.379G>AMANE SELECT
NM_001145.4:c.379G>A
NM_001282192.2:c.-18+293G>A
NM_001282193.2:c.-17-5412G>A
NM_001385271.1:c.379G>A
NM_001385272.1:c.379G>A
NM_001385273.1:c.379G>A
NM_001385274.1:c.379G>A
NM_002937.5:c.-17-5412G>AMANE SELECT
NM_194431.3:c.-18+5069G>A
NP_001091046.1:p.Val127Ile
NP_001136.1:p.Val127Ile
NP_001372200.1:p.Val127Ile
NP_001372201.1:p.Val127Ile
NP_001372202.1:p.Val127Ile
NP_001372203.1:p.Val127Ile
LRG_653t1:c.379G>A
LRG_653:g.14767G>A
LRG_653p1:p.Val127Ile
NC_000014.8:g.21162102G>A

Protein change:

V127I

Molecular consequence:

NM_001282192.2:c.-18+293G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001282193.2:c.-17-5412G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_002937.5:c.-17-5412G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_194431.3:c.-18+5069G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001097577.3:c.379G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001145.4:c.379G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385271.1:c.379G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385272.1:c.379G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385273.1:c.379G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001385274.1:c.379G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002980480	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (May 27, 2023)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 22292798, 28160950, 29411640, 31025543, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002980480

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(May 27, 2023)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

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

Citations

PubMed

Identification of a novel missense mutation in angiogenin in a Chinese amyotrophic lateral sclerosis cohort.

Zou ZY, Wang XN, Liu MS, Sun Q, Li XG, Cui LY, Kong J.

Amyotroph Lateral Scler. 2012 May;13(3):270-5. doi: 10.3109/17482968.2011.643900. Epub 2012 Jan 31.

PubMed [citation]

PMID:: 22292798

Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis.

Nishiyama A, Niihori T, Warita H, Izumi R, Akiyama T, Kato M, Suzuki N, Aoki Y, Aoki M.

Neurobiol Aging. 2017 May;53:194.e1-194.e8. doi: 10.1016/j.neurobiolaging.2017.01.004. Epub 2017 Jan 10.

PubMed [citation]

PMID:: 28160950

See all PubMed Citations (5)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002980480.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1948642). This missense change has been observed in individual(s) with amyotrophic lateral sclerosis (PMID: 22292798, 28160950, 29411640, 31025543). This variant is present in population databases (rs553513710, gnomAD 0.05%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 127 of the ANG protein (p.Val127Ile).

#	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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