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NM_000260.3(MYO7A):c.652G>A (p.Asp218Asn)

Variation ID: Help
29924
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Likely pathogenic
Last evaluated:
Aug 17, 2017
Number of submission(s):
2
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_000260.3(MYO7A):c.652G>A (p.Asp218Asn)

Allele ID:
38879
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.5
Genomic location:
  • Chr11: 77156921 (on Assembly GRCh38)
  • Chr11: 76867967 (on Assembly GRCh37)
Protein change:
D218N
HGVS:
  • NG_009086.1:g.33658G>A
  • NM_000260.3:c.652G>A
  • NP_000251.3:p.Asp218Asn
  • NC_000011.10:g.77156921G>A (GRCh38)
  • NC_000011.9:g.76867967G>A (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs201539845
Molecular consequence:
NM_000260.3:c.652G>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • Exome Aggregation Consortium (ExAC) 0.00003
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
  • The Genome Aggregation Database (gnomAD) 0.00006
  • The Genome Aggregation Database (gnomAD), exomes 0.00004
  • Trans-Omics for Precision Medicine (TOPMed) 0.00003

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
Likely pathogenic
(Aug 17, 2017)
criteria provided, single submitter
clinical testinggermlineLaboratory for Molecular Medicine,Partners HealthCare Personalized MedicineSCV000271251.2
Pathogenic
(Jan 1, 2011)
no assertion criteria providedliterature onlygermlineOMIMSCV000044104.3
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submitters23germlinenot providednot provided
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine23germlinenot providednot providedThe p.Asp218Asn variant in MYO…Full description
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Dec 24, 2018

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