NM_001097577.3(ANG):c.433C>T (p.Arg145Cys) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 7, 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:: RCV001944827.6

Allele description [Variation Report for NM_001097577.3(ANG):c.433C>T (p.Arg145Cys)]

NM_001097577.3(ANG):c.433C>T (p.Arg145Cys)

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.433C>T (p.Arg145Cys)

HGVS:

NC_000014.9:g.20693997C>T
NG_008717.2:g.14821C>T
NG_033053.1:g.14785C>T
NM_001097577.3:c.433C>TMANE SELECT
NM_001145.4:c.433C>T
NM_001282192.2:c.-18+347C>T
NM_001282193.2:c.-17-5358C>T
NM_001385271.1:c.433C>T
NM_001385272.1:c.433C>T
NM_001385273.1:c.433C>T
NM_001385274.1:c.433C>T
NM_002937.5:c.-17-5358C>TMANE SELECT
NM_194431.3:c.-18+5123C>T
NP_001091046.1:p.Arg145Cys
NP_001136.1:p.Arg145Cys
NP_001372200.1:p.Arg145Cys
NP_001372201.1:p.Arg145Cys
NP_001372202.1:p.Arg145Cys
NP_001372203.1:p.Arg145Cys
LRG_653t1:c.433C>T
LRG_653:g.14821C>T
LRG_653p1:p.Arg145Cys
NC_000014.8:g.21162156C>T

Protein change:

R145C

Links:

dbSNP: rs565444731

NCBI 1000 Genomes Browser:

rs565444731

Molecular consequence:

NM_001282192.2:c.-18+347C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001282193.2:c.-17-5358C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_002937.5:c.-17-5358C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_194431.3:c.-18+5123C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001097577.3:c.433C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001145.4:c.433C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001385271.1:c.433C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001385272.1:c.433C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001385273.1:c.433C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001385274.1:c.433C>T - 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
SCV002131682	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 7, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 21621297, 22190368, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002131682

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 7, 2022)

germline

clinical testing

PubMed (3)
[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

SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant.

Luigetti M, Lattante S, Zollino M, Conte A, Marangi G, Del Grande A, Sabatelli M.

Neurobiol Aging. 2011 Oct;32(10):1924.e15-8. doi: 10.1016/j.neurobiolaging.2011.04.004. Epub 2011 May 28.

PubMed [citation]

PMID:: 21621297

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis.

van Es MA, Schelhaas HJ, van Vught PW, Ticozzi N, Andersen PM, Groen EJ, Schulte C, Blauw HM, Koppers M, Diekstra FP, Fumoto K, LeClerc AL, Keagle P, Bloem BR, Scheffer H, van Nuenen BF, van Blitterswijk M, van Rheenen W, Wills AM, Lowe PP, Hu GF, Yu W, et al.

Ann Neurol. 2011 Dec;70(6):964-73. doi: 10.1002/ana.22611. Review.

PubMed [citation]

PMID:: 22190368
PMCID:: PMC5560057

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002131682.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. ClinVar contains an entry for this variant (Variation ID: 1366739). This variant is also known as p.R121C. This missense change has been observed in individual(s) with amyotrophic lateral sclerosis or Parkinson disease (PMID: 21621297, 22190368). This variant is present in population databases (rs565444731, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 145 of the ANG protein (p.Arg145Cys).

#	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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