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NM_012414.4(RAB3GAP2):c.*2090AAAT[2] AND Warburg micro syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000350183.5

Allele description [Variation Report for NM_012414.4(RAB3GAP2):c.*2090AAAT[2]]

NM_012414.4(RAB3GAP2):c.*2090AAAT[2]

Gene:
RAB3GAP2:RAB3 GTPase activating non-catalytic protein subunit 2 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_012414.4(RAB3GAP2):c.*2090AAAT[2]
HGVS:
  • NC_000001.11:g.220149150ATTT[2]
  • NG_015837.2:g.128341AAAT[2]
  • NG_041799.1:g.60038ATTT[2]
  • NM_012414.4:c.*2090AAAT[2]MANE SELECT
  • NC_000001.10:g.220322492ATTT[2]
  • NM_012414.3:c.*2098_*2101delAAAT
Links:
dbSNP: rs886046013
NCBI 1000 Genomes Browser:
rs886046013
Molecular consequence:
  • NM_012414.4:c.*2090AAAT[2] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Warburg micro syndrome
Synonyms:
Micro syndrome
Identifiers:
MONDO: MONDO:0016649; MedGen: C5442005; OMIM: PS600118

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000354399Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000354399.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 29, 2023