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NM_000248.3(MITF):c.649_651delAGA (p.Arg217del)

Variation ID: Help
14272
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jul 1, 2008
Number of submission(s):
2
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_000248.3(MITF):c.649_651delAGA (p.Arg217del)

Allele ID:
29311
Variant type:
Deletion
Cytogenetic location:
3p13
Genomic location:
  • Chr3: 69956469 - 69956471 (on Assembly GRCh38)
  • Chr3: 70005620 - 70005622 (on Assembly GRCh37)
Protein change:
R217del, R317del
HGVS:
  • NG_011631.1:g.221988_221990delAGA
  • NM_000248.3:c.649_651delAGA
  • NM_006722.2:c.949_951delAGA
  • NP_000239.1:p.Arg217del
  • NP_006713.1:p.Arg317del
  • NC_000003.12:g.69956469_69956471delAGA (GRCh38)
  • LRG_776t1:c.649_651delAGA
  • NC_000003.11:g.70005620_70005622delAGA (GRCh37)
  • NG_011631.1:g.221988_221990del
  • LRG_776p1:p.Arg217del
  • LRG_776:g.221988_221990delAGA
Links:
OMIM: 156845.0003

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
(Jul 1, 2008)
no assertion criteria providedliterature onlygermlineOMIMSCV000035601.3
Pathogenic
(Jul 1, 2008)
no assertion criteria providedliterature only
  • Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness[MedGen | OMIM]
germlineOMIMSCV000590793.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 6, 2017