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NM_001097577.3(ANG):c.121A>G (p.Lys41Glu) AND Amyotrophic lateral sclerosis type 9

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 1, 2006
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:
RCV000019701.29

Allele description [Variation Report for NM_001097577.3(ANG):c.121A>G (p.Lys41Glu)]

NM_001097577.3(ANG):c.121A>G (p.Lys41Glu)

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.121A>G (p.Lys41Glu)
Other names:
K17E
HGVS:
  • NC_000014.9:g.20693685A>G
  • NG_008717.2:g.14509A>G
  • NG_033053.1:g.14473A>G
  • NM_001097577.3:c.121A>GMANE SELECT
  • NM_001145.4:c.121A>G
  • NM_001282192.2:c.-18+35A>G
  • NM_001282193.2:c.-17-5670A>G
  • NM_001385271.1:c.121A>G
  • NM_001385272.1:c.121A>G
  • NM_001385273.1:c.121A>G
  • NM_001385274.1:c.121A>G
  • NM_002937.5:c.-17-5670A>GMANE SELECT
  • NM_194431.3:c.-18+4811A>G
  • NP_001091046.1:p.Lys41Glu
  • NP_001136.1:p.Lys41Glu
  • NP_001372200.1:p.Lys41Glu
  • NP_001372201.1:p.Lys41Glu
  • NP_001372202.1:p.Lys41Glu
  • NP_001372203.1:p.Lys41Glu
  • LRG_653t1:c.121A>G
  • LRG_653:g.14509A>G
  • LRG_653p1:p.Lys41Glu
  • NC_000014.8:g.21161844A>G
  • NR_174964.1:n.531T>C
  • P03950:p.Lys41Glu
Protein change:
K41E; LYS17GLU
Links:
UniProtKB: P03950#VAR_044148; OMIM: 105850.0003; dbSNP: rs121909537
NCBI 1000 Genomes Browser:
rs121909537
Molecular consequence:
  • NM_001282192.2:c.-18+35A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282193.2:c.-17-5670A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002937.5:c.-17-5670A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_194431.3:c.-18+4811A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001097577.3:c.121A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145.4:c.121A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385271.1:c.121A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385272.1:c.121A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385273.1:c.121A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385274.1:c.121A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_174964.1:n.531T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Amyotrophic lateral sclerosis type 9 (ALS9)
Identifiers:
MONDO: MONDO:0012753; MedGen: C2678468; Orphanet: 803; OMIM: 611895

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000039999OMIM
no assertion criteria provided
Pathogenic
(Apr 1, 2006) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.

Greenway MJ, Andersen PM, Russ C, Ennis S, Cashman S, Donaghy C, Patterson V, Swingler R, Kieran D, Prehn J, Morrison KE, Green A, Acharya KR, Brown RH Jr, Hardiman O.

Nat Genet. 2006 Apr;38(4):411-3. Epub 2006 Feb 26.

PubMed [citation]
PMID:
16501576

Details of each submission

From OMIM, SCV000039999.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In an individual of Swedish ethnicity and 1 of northern Irish ethnicity with amyotrophic lateral sclerosis (ALS9; 611895), Greenway et al. (2006) identified a heterozygous 121A-G transition in the ANG gene, resulting in a lys17-to-glu (K17E) substitution. The individuals shared a unique haplotype for the K17E mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 13, 2025