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NM_012233.3(RAB3GAP1):c.2486T>A (p.Leu829Ter) AND Warburg micro syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 11, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001352686.1

Allele description [Variation Report for NM_012233.3(RAB3GAP1):c.2486T>A (p.Leu829Ter)]

NM_012233.3(RAB3GAP1):c.2486T>A (p.Leu829Ter)

Gene:
RAB3GAP1:RAB3 GTPase activating protein catalytic subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q21.3
Genomic location:
Preferred name:
NM_012233.3(RAB3GAP1):c.2486T>A (p.Leu829Ter)
HGVS:
  • NC_000002.12:g.135162847T>A
  • NG_016972.1:g.115583T>A
  • NM_001172435.2:c.2486T>A
  • NM_012233.3:c.2486T>AMANE SELECT
  • NP_001165906.1:p.Leu829Ter
  • NP_036365.1:p.Leu829Ter
  • NC_000002.11:g.135920417T>A
Protein change:
L829*
Links:
dbSNP: rs1558805781
NCBI 1000 Genomes Browser:
rs1558805781
Molecular consequence:
  • NM_001172435.2:c.2486T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_012233.3:c.2486T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Warburg micro syndrome 1 (WARBM1)
Synonyms:
Microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy and hypogenitalism
Identifiers:
MONDO: MONDO:0010822; MedGen: C1838625; Orphanet: 2510; OMIM: 600118

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001547479Laboratory of Medical Genetics, University of Torino
no assertion criteria provided
Pathogenic
(Mar 11, 2021) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Laboratory of Medical Genetics, University of Torino, SCV001547479.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022