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NM_017617.4(NOTCH1):c.5965G>A (p.Asp1989Asn)

Variation ID: Help
156212
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Conflicting interpretations of pathogenicity
Benign(1);Pathogenic(1)
Last evaluated:
Jul 23, 2015
Number of submission(s):
2
Condition(s):
Adams-Oliver syndrome 5[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_017617.4(NOTCH1):c.5965G>A (p.Asp1989Asn)

Allele ID:
166009
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.3
Genomic location:
  • Chr9: 136499229 (on Assembly GRCh38)
  • Chr9: 139393681 (on Assembly GRCh37)
Protein change:
D1989N
HGVS:
  • NG_007458.1:g.51558G>A
  • NM_017617.4:c.5965G>A
  • NP_060087.3:p.Asp1989Asn
  • NC_000009.12:g.136499229C>T (GRCh38)
  • NC_000009.11:g.139393681C>T (GRCh37)
  • P46531:p.Asp1989Asn
  • NC_000009.11:g.139393681G>A (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs587777734
Molecular consequence:
NM_017617.4:c.5965G>A: missense variant [Sequence Ontology SO:0001583]

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
(Sep 4, 2014)
no assertion criteria providedliterature onlygermlineOMIMSCV000189367.3
Benign
(Jul 23, 2015)
no assertion criteria providedresearchunknownUniversity of British Columbia

See additional submitters

SCV000172280.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submitters11germline, unknownnot providednot provided
OMIMnot providednot providedgermlinenot providednot providednot provided
University of British Columbia11unknownnot providednot providedWe have since determined that …Full description
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Jul 21, 2018