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NM_001193315.2(VIPAS39):c.1048-1G>T AND Arthrogryposis, renal dysfunction, and cholestasis 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 9, 2023
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:
RCV003333868.1

Allele description [Variation Report for NM_001193315.2(VIPAS39):c.1048-1G>T]

NM_001193315.2(VIPAS39):c.1048-1G>T

Gene:
VIPAS39:VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q24.3
Genomic location:
Preferred name:
NM_001193315.2(VIPAS39):c.1048-1G>T
HGVS:
  • NC_000014.9:g.77434304C>A
  • NG_023421.2:g.28337G>T
  • NM_001193314.2:c.1048-1G>T
  • NM_001193315.2:c.1048-1G>TMANE SELECT
  • NM_001193316.2:c.901-1G>T
  • NM_001193317.2:c.1048-1G>T
  • NM_001400324.1:c.901-1G>T
  • NM_001400325.1:c.901-1G>T
  • NM_001400326.1:c.1048-1G>T
  • NM_001400327.1:c.1015-1G>T
  • NM_001400330.1:c.1048-1G>T
  • NM_001400331.1:c.1048-1G>T
  • NM_001400332.1:c.1048-1G>T
  • NM_001400333.1:c.955-1G>T
  • NM_001400334.1:c.955-1G>T
  • NM_001400335.1:c.1048-1G>T
  • NM_001400336.1:c.913-1G>T
  • NM_001400337.1:c.808-1G>T
  • NM_001400338.1:c.946-1G>T
  • NM_001400339.1:c.763-1G>T
  • NM_022067.4:c.1048-1G>T
  • LRG_1019t1:c.1048-1G>T
  • LRG_1019:g.28337G>T
  • NC_000014.8:g.77900647C>A
Molecular consequence:
  • NM_001193314.2:c.1048-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001193315.2:c.1048-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001193316.2:c.901-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001193317.2:c.1048-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001400324.1:c.901-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001400325.1:c.901-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001400326.1:c.1048-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001400327.1:c.1015-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001400330.1:c.1048-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001400331.1:c.1048-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001400332.1:c.1048-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001400333.1:c.955-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001400334.1:c.955-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001400335.1:c.1048-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001400336.1:c.913-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001400337.1:c.808-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001400338.1:c.946-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001400339.1:c.763-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_022067.4:c.1048-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Arthrogryposis, renal dysfunction, and cholestasis 2 (ARCS2)
Identifiers:
MONDO: MONDO:0013255; MedGen: C3150672; Orphanet: 2697; OMIM: 613404

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004041754Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
no assertion criteria provided
Likely pathogenic
(Oct 9, 2023) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Zotz-Klimas Genetics Lab, MVZ Zotz Klimas, SCV004041754.1

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

Last Updated: Oct 14, 2023