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NM_000260.3(MYO7A):c.397C>A (p.His133Asn)

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

Interpretation Help

Clinical significance:
Uncertain significance
Last evaluated:
Jan 26, 2017
Number of submission(s):
See supporting ClinVar records

Allele(s) Help

NM_000260.3(MYO7A):c.397C>A (p.His133Asn)

Allele ID:
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
  • Chr11: 77156018 (on Assembly GRCh38)
  • Chr11: 76867064 (on Assembly GRCh37)
Protein change:
  • NG_009086.1:g.32755C>A
  • NM_000260.3:c.397C>A
  • NP_000251.3:p.His133Asn
  • NC_000011.10:g.77156018C>A (GRCh38)
  • NC_000011.9:g.76867064C>A (GRCh37)
NCBI 1000 Genomes Browser:
Molecular consequence:
NM_000260.3:c.397C>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • Exome Aggregation Consortium (ExAC) 0.00003
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00024
  • The Genome Aggregation Database (gnomAD) 0.00003
  • The Genome Aggregation Database (gnomAD), exomes 0.00004
  • Trans-Omics for Precision Medicine (TOPMed) 0.00010

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details


Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Uncertain significance
(Aug 4, 2016)
criteria provided, single submitter
clinical testinggermlineLaboratory for Molecular Medicine,Partners HealthCare Personalized MedicineSCV000199541.4
Uncertain significance
(Jan 26, 2017)
criteria provided, single submitter
clinical testingunknown
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submitters11germline, unknownnot providednot provided
    Counsylnot providednot providedunknownnot providednot providednot providednot provided
    Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine11germlinenot providednot providedVariant classified as Uncertai…Full description
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: May 2, 2019

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