NM_020919.3(ALS2):c.138delA (p.Ala47Profs)

NM_020919.3(ALS2):c.138delA (p.Ala47Profs)

Variant type:
Deletion
Cytogenetic location:
2q33
Genomic location:
  • Chr2:201767266 (on Assembly GRCh38)
  • Chr2:202631989 (on Assembly GRCh37)
Other names:
  • c.138delA(A261del)
HGVS:
  • NG_008775.1:g.18907delA
  • NM_020919.3:c.138delA
  • NC_000002.12:g.201767266delT (GRCh38)
  • NP_065970.2:p.Ala47Profs
  • NC_000002.11:g.202631989delT (GRCh37)
  • NP_065970.2:p.Ala46fs
Links:
NCBI 1000 Genomes Browser:
rs386134173
Molecular consequence:
NM_020919.3:c.138delA: frameshift variant [Sequence Ontology SO:0001589]

Clinical significance

NM_020919.3(ALS2):c.138delA (p.Ala47Profs)

Clinical significance:
Pathogenic
Review status:
(0/4)0 stars out of maximum of 4 stars
no assertion criteria provided
Number of submission(s):
2
Condition(s)
  • Amyotrophic lateral sclerosis type 2[MedGen - OMIM]
See supporting ClinVar records

1 Affected gene

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study name
(Last submitted)
Submission accession
Pathogenic
(Mar 2, 2015)
no assertion criteria providedliterature only
  • Amyotrophic lateral sclerosis type 2[MedGen | OMIM]
germlinePubMed (4)
[See all records that cite these PMIDs]
OMIM

(Dec 30, 2010)

SCV000024829
Pathogenic
(Feb 10, 2011)
no assertion criteria providedliterature only
  • Amyotrophic lateral sclerosis type 2[MedGen | OMIM]
not providedPubMed (3)
[See all records that cite these PMIDs]
GeneReviews

(Apr 30, 2013)

SCV000058584
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot providednot providedgermline, not providednot providednot provided
GeneReviewsnot providednot providednot providednot providednot providedPubMednot provided
OMIMnot providednot providedgermlinenot providednot providedPubMednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription
GeneReviewsnot providednot providedAmyotrophic lateral sclerosis type 2 (not provided)not providednot providedPubMednot provided
OMIMgermlinenot providedAmyotrophic lateral sclerosis type 2 (not provided)not providednot providedPubMedHadano (2002) pointed out that this mutation, which Hadano et al. (2001) identified as 261delA, should be referred to as 138delA.…Full description

Last Updated: Aug 27, 2015