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NM_001289104.2(PRKCSH):c.805_845del (p.Tyr269fs) AND Polycystic liver disease 1

Germline classification:
Likely pathogenic (1 submission)
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:
RCV003319950.2

Allele description [Variation Report for NM_001289104.2(PRKCSH):c.805_845del (p.Tyr269fs)]

NM_001289104.2(PRKCSH):c.805_845del (p.Tyr269fs)

Gene:
PRKCSH:PRKCSH beta subunit of glucosidase II [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_001289104.2(PRKCSH):c.805_845del (p.Tyr269fs)
HGVS:
  • NC_000019.10:g.11447116_11447156del
  • NG_009300.1:g.16663_16703del
  • NG_009300.2:g.16483_16523del
  • NM_001001329.3:c.805_845del
  • NM_001289102.2:c.805_845del
  • NM_001289103.2:c.805_845del
  • NM_001289104.2:c.805_845delMANE SELECT
  • NM_001379608.1:c.805_845del
  • NM_001379609.1:c.805_845del
  • NM_002743.3:c.805_845del
  • NP_001001329.1:p.Tyr269fs
  • NP_001276031.1:p.Tyr269fs
  • NP_001276032.1:p.Tyr269fs
  • NP_001276033.1:p.Tyr269fs
  • NP_001366537.1:p.Tyr269fs
  • NP_001366538.1:p.Tyr269fs
  • NP_002734.2:p.Tyr269fs
  • NC_000019.9:g.11557931_11557971del
  • NM_001289104.2:c.805_845delTACGACCGCGTCTGGGCCGCCATCAGGGACAAGTACCGGTCMANE SELECT
Protein change:
Y269fs
Molecular consequence:
  • NM_001001329.3:c.805_845del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001289102.2:c.805_845del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001289103.2:c.805_845del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001289104.2:c.805_845del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001379608.1:c.805_845del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001379609.1:c.805_845del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_002743.3:c.805_845del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Polycystic liver disease 1 (PCLD1)
Synonyms:
POLYCYSTIC LIVER DISEASE 1 WITH OR WITHOUT KIDNEY CYSTS
Identifiers:
MONDO: MONDO:0008265; MedGen: C0887850; Orphanet: 2924; OMIM: 174050

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004024117Genomics And Bioinformatics Analysis Resource, Columbia University
no assertion criteria provided
Likely pathogenicunknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Genomics And Bioinformatics Analysis Resource, Columbia University, SCV004024117.1

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

Last Updated: May 7, 2024