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NM_001374385.1(ATP8B1):c.698+564_941-154dup AND Progressive familial intrahepatic cholestasis type 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 3, 2021
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:
RCV001559144.2

Allele description [Variation Report for NM_001374385.1(ATP8B1):c.698+564_941-154dup]

NM_001374385.1(ATP8B1):c.698+564_941-154dup

Genes:
ATP8B1:ATPase phospholipid transporting 8B1 [Gene - OMIM - HGNC]
LOC126862761:CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:55360919-55362118 [Gene]
Variant type:
Duplication
Cytogenetic location:
18q21.31
Genomic location:
Preferred name:
NM_001374385.1(ATP8B1):c.698+564_941-154dup
HGVS:
  • NC_000018.10:g.57694831_57697061dup
  • NG_007148.3:g.111769_113999dup
  • NM_001374385.1:c.698+564_941-154dupMANE SELECT
  • NM_001374386.1:c.548+564_791-154dup
  • NM_005603.6:c.698+564_941-154dup
  • LRG_1205t1:c.698+564_941-154dup
  • LRG_1205:g.111769_113999dup
  • NC_000018.9:g.55362062_55364292dup
  • NC_000018.9:g.55362063_55364293dup
Molecular consequence:
  • NM_001374385.1:c.698+564_941-154dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001374386.1:c.548+564_791-154dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_005603.6:c.698+564_941-154dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001374385.1:c.698+564_941-154dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001374386.1:c.548+564_791-154dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_005603.6:c.698+564_941-154dup - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Progressive familial intrahepatic cholestasis type 1
Synonyms:
Byler's disease; Byler disease
Identifiers:
MONDO: MONDO:0008892; MedGen: C4551898; Orphanet: 79306; OMIM: 211600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001775483The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jun 3, 2021) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University, SCV001775483.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024