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NM_000927.4(ABCB1):c.1199G>A (p.Ser400Asn)

Variation ID: Help
194008
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Benign
Last evaluated:
Oct 4, 2015
Number of submission(s):
2
See supporting ClinVar records

Allele(s) Help

NM_000927.4(ABCB1):c.1199G>A (p.Ser400Asn)

Allele ID:
191171
Variant type:
single nucleotide variant
Cytogenetic location:
7q21.12
Genomic location:
  • Chr7: 87550493 (on Assembly GRCh38)
  • Chr7: 87179809 (on Assembly GRCh37)
Protein change:
S400N
HGVS:
  • NG_011513.1:g.167756G>A
  • NM_000927.4:c.1199G>A
  • NP_000918.2:p.Ser400Asn
  • NC_000007.14:g.87550493C>T (GRCh38)
  • NC_000007.13:g.87179809C>T (GRCh37)
  • P08183:p.Ser400Asn
Links:
NCBI 1000 Genomes Browser:
rs2229109
Molecular consequence:
NM_000927.4:c.1199G>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • 1000 Genomes Project 0.01258 (T)
  • 1000 Genomes Project 0.01258
  • Exome Aggregation Consortium (ExAC) 0.02902
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.02823
  • The Genome Aggregation Database (gnomAD) 0.02521
  • The Genome Aggregation Database (gnomAD), exomes 0.02755
  • Trans-Omics for Precision Medicine (TOPMed) 0.02559

1 Affected gene

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
Benign
(May 22, 2014)
criteria provided, single submitter
clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000225537.5
Benign
(Oct 4, 2015)
criteria provided, single submitter
clinical testingunknown
    Division of Genomic Diagnostics,The Children's Hospital of Philadelphia
    Study description
    SCV000296966.2
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot provided1germline, unknownnot providednot provided
    Division of Genomic Diagnostics,The Children's Hospital of Philadelphianot providednot providedunknownnot providednot providednot providednot provided
    EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided1germlinenot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Mar 31, 2019

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