NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile) AND Progressive familial intrahepatic cholestasis type 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 27, 2017
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:: RCV001122637.5

Allele description [Variation Report for NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile)]

NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile)

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.913T>A (p.Phe305Ile)

HGVS:

NC_000018.10:g.57695198A>T
NG_007148.3:g.113625T>A
NM_001374385.1:c.913T>AMANE SELECT
NM_001374386.1:c.763T>A
NM_005603.6:c.913T>A
NP_001361314.1:p.Phe305Ile
NP_001361315.1:p.Phe255Ile
NP_005594.2:p.Phe305Ile
LRG_1205t1:c.913T>A
LRG_1205:g.113625T>A
LRG_1205p1:p.Phe305Ile
NC_000018.9:g.55362430A>T
NM_005603.4:c.913T>A
O43520:p.Phe305Ile

Protein change:

F255I

Links:

UniProtKB: O43520#VAR_043048; dbSNP: rs150860808

NCBI 1000 Genomes Browser:

rs150860808

Molecular consequence:

NM_001374385.1:c.913T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374386.1:c.763T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005603.6:c.913T>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001281377	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Uncertain significance (Apr 27, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 24260417, 1774530 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001281377

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Uncertain significance
(Apr 27, 2017)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutational analysis of ATP8B1 in patients with chronic pancreatitis.

van der Woerd WL, van Haaften-Visser DY, van de Graaf SF, Férec C, Masson E, Stapelbroek JM, Bugert P, Witt H, Houwen RH.

PLoS One. 2013;8(11):e80553. doi: 10.1371/journal.pone.0080553.

PubMed [citation]

PMID:: 24260417
PMCID:: PMC3834041

[Therapy of ascites complicated with liver cirrhosis].

Sato S, Suzuki K.

Nihon Naika Gakkai Zasshi. 1991 Oct 10;80(10):1631-6. Japanese. No abstract available.

PubMed [citation]

PMID:: 1774530

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001281377.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Nov 24, 2024

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