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NM_002461.2(MVD):c.875A>G (p.Asn292Ser)

Variation ID: Help
253040
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jul 23, 2015
Number of submission(s):
1
Condition(s):
Porokeratosis 7, multiple types[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_002461.2(MVD):c.875A>G (p.Asn292Ser)

Allele ID:
247451
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.2
Genomic location:
  • Chr16: 88655221 (on Assembly GRCh38)
  • Chr16: 88721629 (on Assembly GRCh37)
Protein change:
N292S
HGVS:
  • NM_002461.2:c.875A>G
  • NP_002452.1:p.Asn292Ser
  • NC_000016.10:g.88655221T>C (GRCh38)
  • NC_000016.9:g.88721629T>C (GRCh37)
  • NM_002461.1:c.875A>G
  • P53602:p.Asn292Ser
Links:
NCBI 1000 Genomes Browser:
rs755948940
Molecular consequence:
NM_002461.2:c.875A>G: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • Exome Aggregation Consortium (ExAC) 0.00004
  • The Genome Aggregation Database (gnomAD) 0.00003
  • Trans-Omics for Precision Medicine (TOPMed) 0.00002

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
Pathogenic
(Jul 23, 2015)
no assertion criteria providedliterature onlygermlineOMIMSCV000297829.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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