NM_000098.2(CPT2):c.[1055T>G;1102G>A] – Haplotype

Variation ID: Help
30118
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
risk factor
Last evaluated:
Aug 1, 2011
Number of submission(s):
1
Condition(s):
Encephalopathy, acute, infection-induced, 4, susceptibility to[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000098.2(CPT2):c.1055T>G (p.Phe352Cys)

Allele ID:
39073
Variant type:
single nucleotide variant
Cytogenetic location:
1p32.3
Genomic location:
  • Chr1: 53210729 (on Assembly GRCh38)
  • Chr1: 53676401 (on Assembly GRCh37)
Protein change:
F352C
HGVS:
  • NG_008035.1:g.19301T>G
  • NM_000098.2:c.1055T>G
  • NP_000089.1:p.Phe352Cys
  • NC_000001.11:g.53210729T>G (GRCh38)
  • NC_000001.10:g.53676401T>G (GRCh37)
  • P23786:p.Phe352Cys
Links:
NCBI 1000 Genomes Browser:
rs2229291
Molecular consequence:
NM_000098.2:c.1055T>G: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.00715 (G)
  • GMAF 0.04650 (G)
  • ExAC 0.02184 (G)

NM_000098.2(CPT2):c.1102G>A (p.Val368Ile)

Allele ID:
39074
Variant type:
single nucleotide variant
Cytogenetic location:
1p32.3
Genomic location:
  • Chr1: 53210776 (on Assembly GRCh38)
  • Chr1: 53676448 (on Assembly GRCh37)
Other names:
  • p.V368I:GTC>ATC
Protein change:
V368I
HGVS:
  • NG_008035.1:g.19348G>A
  • NM_000098.2:c.1102G>A
  • NP_000089.1:p.Val368Ile
  • NC_000001.11:g.53210776G>A (GRCh38)
  • NC_000001.10:g.53676448G>A (GRCh37)
  • P23786:p.Val368Ile
Links:
NCBI 1000 Genomes Browser:
rs1799821
Molecular consequence:
NM_000098.2:c.1102G>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.45640 (A)
  • GMAF 0.41310 (A)
  • ExAC 0.48413 (A)

Assertions for related alleles

NM_000098.2(CPT2):c.1102G>A (p.Val368Ile)

Clinical significance:
Benign
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Number of submission(s):
4
Condition(s)
See supporting ClinVar records

NM_000098.2(CPT2):c.1055T>G (p.Phe352Cys)

Clinical significance:
Benign/Likely benign
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Number of submission(s):
4
Condition(s)
See supporting ClinVar records

Variant frequency in dbGaP Help

NM_000098.2(CPT2):c.1055T>G (p.Phe352Cys)

GRCh37 Chr1:53676401
Called variantsPotential variants
Sample count81 of 8954529 of 41098

NM_000098.2(CPT2):c.1102G>A (p.Val368Ile)

GRCh37 Chr1:53676448
Called variantsPotential variants
Sample count62602 of 7825229868 of 41096

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
risk factor
(Aug 1, 2011)
no assertion criteria providedliterature onlygermlineOMIMSCV000044317.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: May 5, 2017