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NM_012144.3(DNAI1):c.2001+1G>A (p.Ala607_Lys667del)

Variation ID: Help
65704
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_012144.3(DNAI1):c.2001+1G>A (p.Ala607_Lys667del)

Allele ID:
76612
Variant type:
single nucleotide variant
Cytogenetic location:
9p13
Genomic location:
  • Chr9: 34517468 (on Assembly GRCh38)
  • Chr9: 34517466 (on Assembly GRCh37)
Other names:
  • IVS19+1G>A
HGVS:
  • NG_008127.1:g.63656G>A
  • NM_012144.3:c.2001+1G>A
  • NP_036276.1:p.Ala607_Lys667del
  • NC_000009.12:g.34517468G>A (GRCh38)
  • NC_000009.11:g.34517466G>A (GRCh37)
  • NM_012144.2:c.2001+1G>A
Links:
NCBI 1000 Genomes Browser:
rs397515563
Molecular consequence:
NM_012144.3:c.2001+1G>A: splice donor variant [Sequence Ontology SO:0001575]
Allele frequency:
The Genome Aggregation Database (gnomAD), exomes 0.00000

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
(Dec 28, 2016)
criteria provided, single submitter
clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000704710.2
Likely pathogenic
(Apr 18, 2018)
criteria provided, single submitter
clinical testinggermlineInvitaeSCV000826640.1
Pathogenic
(Sep 3, 2015)
no assertion criteria providedliterature onlygermlineGeneReviewsSCV000086952.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot provided2germlinenot providednot provided
EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided2germlinenot providednot providednot provided
GeneReviewsnot providednot providedgermlinenot providednot providednot provided
Invitaenot providednot providedgermlinenot providednot providedThis sequence change affects a…Full description
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: May 19, 2019

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