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NM_001321148.1(TMEM94):c.795-1G>C

Variation ID: Help
598744
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Mar 16, 2018
Number of submission(s):
2
Condition(s):
  • TMEM94-related condition
  • Intellectual developmental disorder with cardiac defects and dysmorphic facies [MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_001321148.1(TMEM94):c.795-1G>C

Allele ID:
589808
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.1
Genomic location:
  • Chr17: 75489265 (on Assembly GRCh38)
  • Chr17: 73490987 (on Assembly GRCh37)
Other names:
  • IVS6AS, G-C, -1
HGVS:
  • NG_054884.1:g.53107G>C
  • NM_001321148.1:c.795-1G>C
  • NM_014738.6:c.765-1G>C
  • NC_000017.11:g.75489265G>C (GRCh38)
  • NC_000017.10:g.73485346G>C (GRCh37)
Links:
OMIM: 618163.0004
Molecular consequence:
NM_014738.6:c.765-1G>C: splice acceptor variant [Sequence Ontology SO:0001574]

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
(Mar 16, 2018)
criteria provided, single submitter
clinical testing
  • TMEM94-related condition (Autosomal recessive inheritance)
unknown
    Undiagnosed Diseases Network,NIHSCV000863414.1
    Pathogenic
    (Feb 6, 2019)
    no assertion criteria providedliterature only
    • Intellectual developmental disorder with cardiac defects and dysmorphic facies[MedGen | OMIM]
    germlineOMIMSCV000882713.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submitters11germline, unknownWhitenot provided
    OMIMnot providednot providedgermlinenot providednot providednot provided
    Undiagnosed Diseases Network,NIH11unknownWhitenot providednot providedDescribed in manuscript "Bi-al…Full description
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Mar 31, 2019

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