NM_018834.5(MATR3):c.254C>G (p.Ser85Cys)

Variation ID: Help
14002
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic/Likely pathogenic
Last evaluated:
Nov 1, 2014
Number of submission(s):
2
Condition(s):
Myopathy, distal, 2[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_018834.5(MATR3):c.254C>G (p.Ser85Cys)

Allele ID:
29041
Variant type:
single nucleotide variant
Cytogenetic location:
5q31.2
Genomic location:
  • Chr5: 139307669 (on Assembly GRCh38)
  • Chr5: 138643358 (on Assembly GRCh37)
Protein change:
S85C
HGVS:
  • NG_012846.1:g.38567C>G
  • NM_001194956.1:c.49-7006C>G
  • NM_018834.5:c.254C>G
  • NM_199189.2:c.254C>G
  • NC_000005.10:g.139307669C>G (GRCh38)
  • NP_061322.2:p.Ser85Cys
  • NP_954659.1:p.Ser85Cys
  • NC_000005.9:g.138643358C>G (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs121434591
Molecular consequence:
  • NM_001194956.1:c.49-7006C>G: intron variant SO:0001627
  • NM_199189.2:c.254C>G: missense variant SO:0001583

Variant frequency in dbGaP Help

NM_018834.5(MATR3):c.254C>G (p.Ser85Cys)

GRCh37 Chr5:138643358
Called variantsPotential variants
Sample countno data0 of 40913

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.

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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
Pathogenic
(Nov 1, 2014)
no assertion criteria providedliterature onlygermlineOMIMSCV000035295.3
Likely pathogenicno assertion criteria providedliterature onlynot providedUniProtKB/Swiss-ProtSCV000091147.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot providednot providedgermline, not providednot providednot provided
OMIMnot providednot providedgermlinenot providednot providednot provided
UniProtKB/Swiss-Protnot providednot providednot providednot providednot providedConverted during submission to…Full description
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Feb 17, 2016