NM_001374385.1(ATP8B1):c.2097+2T>C AND Progressive familial intrahepatic cholestasis type 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 1998
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:: RCV000007687.4

Allele description [Variation Report for NM_001374385.1(ATP8B1):c.2097+2T>C]

NM_001374385.1(ATP8B1):c.2097+2T>C

Gene:

ATP8B1:ATPase phospholipid transporting 8B1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q21.31

Genomic location:

Preferred name:

NM_001374385.1(ATP8B1):c.2097+2T>C

HGVS:

NC_000018.10:g.57669316A>G
NG_007148.3:g.139507T>C
NM_001374385.1:c.2097+2T>CMANE SELECT
NM_001374386.1:c.1947+2T>C
NM_005603.6:c.2097+2T>C
LRG_1205t1:c.2097+2T>C
LRG_1205:g.139507T>C
NC_000018.9:g.55336548A>G
NG_007148.2:g.138780T>C

Links:

OMIM: 602397.0004; dbSNP: rs387906381

NCBI 1000 Genomes Browser:

rs387906381

Molecular consequence:

NM_001374385.1:c.2097+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001374386.1:c.1947+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
NM_005603.6:c.2097+2T>C - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000027888	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 1998)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000027888

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 1998)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.

Bull LN, van Eijk MJ, Pawlikowska L, DeYoung JA, Juijn JA, Liao M, Klomp LW, Lomri N, Berger R, Scharschmidt BF, Knisely AS, Houwen RH, Freimer NB.

Nat Genet. 1998 Mar;18(3):219-24.

PubMed [citation]

PMID:: 9500542

Details of each submission

From OMIM, SCV000027888.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a patient with progressive familial intrahepatic cholestasis (PFIC1; 211600), Bull et al. (1998) found compound heterozygosity for 2 mutations in the ATP8B1 gene: a 1.4-kb deletion (602397.0005) and a 2097+2T-C transition in the splice site consensus sequence immediately 3-prime of the exon that encodes amino acid residues 645-699. This exon was predicted to encode part of the larger cytoplasmic domain.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 23, 2024

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