NM_001145.4(ANG):c.122A>T (p.Lys41Ile)

Variation ID: Help
18074
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Conflicting interpretations of pathogenicity
Likely benign(1);Pathogenic(1)
Last evaluated:
Jun 14, 2016
Number of submission(s):
2
Condition(s):
  • Amyotrophic lateral sclerosis type 9 [MedGen - OMIM]
  • Amyotrophic Lateral Sclerosis, Dominant [MedGen]
See supporting ClinVar records

Allele(s) Help

NM_001145.4(ANG):c.122A>T (p.Lys41Ile)

Allele ID:
33113
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
  • Chr14: 20693686 (on Assembly GRCh38)
  • Chr14: 21161845 (on Assembly GRCh37)
Protein change:
K17I, K41I
HGVS:
  • NG_008717.2:g.14510A>T
  • NM_001145.4:c.122A>T
  • NP_001136.1:p.Lys41Ile
  • NC_000014.9:g.20693686A>T (GRCh38)
  • LRG_653t1:c.122A>T
  • NC_000014.8:g.21161845A>T (GRCh37)
  • NG_008717.1:g.14510A>T
  • P03950:p.Lys41Ile
  • LRG_653p1:p.Lys41Ile
  • LRG_653:g.14510A>T
Links:
NCBI 1000 Genomes Browser:
rs121909536
Molecular consequence:
NM_001145.4:c.122A>T: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.00200 (T)
  • GMAF 0.00040 (T)
  • ExAC 0.00142 (T)

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
clinical testing
  • Amyotrophic Lateral Sclerosis, Dominant[MedGen]
germlineIllumina Clinical Services Laboratory,IlluminaSCV000385374.2
Pathogenic
(Aug 1, 2010)
no assertion criteria providedliterature only
  • Amyotrophic lateral sclerosis type 9[MedGen | OMIM]
germlineOMIMSCV000039998.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot providednot providedgermlinenot providednot provided
Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot provided
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 6, 2017