NM_001172435.1(RAB3GAP1):c.899+1G>A AND Warburg micro syndrome 1

Clinical significance:Pathogenic (Last evaluated: May 1, 2013)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000087133.4

Allele description

NM_001172435.1(RAB3GAP1):c.899+1G>A

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_001172435.1(RAB3GAP1):c.899+1G>A
HGVS:
  • NC_000002.12:g.135126250G>A
  • NG_016972.1:g.78986G>A
  • NM_001172435.1:c.899+1G>A
  • NC_000002.11:g.135883820G>A
Nucleotide change:
IVS10, G-A, +1
Links:
OMIM: 602536.0008; dbSNP: rs587777152
NCBI 1000 Genomes Browser:
rs587777152
Allele Frequency:
0.00001(A)
Molecular consequence:
  • NM_001172435.1:c.899+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Warburg micro syndrome 1 (WARBM1)
Identifiers:
MedGen: C1838625; Orphanet: 2510; OMIM: 600118
Age of onset:
Childhood

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000119994OMIMno assertion criteria providedPathogenic
(May 1, 2013)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.

Handley MT, Morris-Rosendahl DJ, Brown S, Macdonald F, Hardy C, Bem D, Carpanini SM, Borck G, Martorell L, Izzi C, Faravelli F, Accorsi P, Pinelli L, Basel-Vanagaite L, Peretz G, Abdel-Salam GM, Zaki MS, Jansen A, Mowat D, Glass I, Stewart H, Mancini G, et al.

Hum Mutat. 2013 May;34(5):686-96. doi: 10.1002/humu.22296.

PubMed [citation]
PMID:
23420520

Details of each submission

From OMIM, SCV000119994.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a Czech boy with microcephaly, microphthalmia, cataract, mental retardation, progressive spastic diplegia, and hypogenitalism (WARBM1; 600118), who was originally described by Seemanova and Lesny (1996), Handley et al. (2013) identified compound heterozygosity for a splice site transition in intron 10 (c.899+1G-A) of the RAB3GAP1 gene, and a 19-bp insertion in exon 18 (c.2055_2056insGCTCTCAGATATGGAGTCT; 602536.0009), causing a frameshift predicted to result in a premature termination codon (Phe686AlafsTer20). The proband's mother, a maternal aunt, and maternal grandmother were heterozygous for the splicing mutation, whereas his father was heterozygous for the frameshift mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2017