NM_001374385.1(ATP8B1):c.2821C>T (p.Arg941Ter) AND Progressive familial intrahepatic cholestasis type 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 16, 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:: RCV002272580.2

Allele description [Variation Report for NM_001374385.1(ATP8B1):c.2821C>T (p.Arg941Ter)]

NM_001374385.1(ATP8B1):c.2821C>T (p.Arg941Ter)

Genes:

ATP8B1-AS1:ATP8B1 antisense RNA 1 [Gene - HGNC]
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.2821C>T (p.Arg941Ter)

HGVS:

NC_000018.10:g.57655304G>A
NG_007148.3:g.153519C>T
NM_001374385.1:c.2821C>TMANE SELECT
NM_001374386.1:c.2671C>T
NM_005603.6:c.2821C>T
NP_001361314.1:p.Arg941Ter
NP_001361315.1:p.Arg891Ter
NP_005594.2:p.Arg941Ter
LRG_1205t1:c.2821C>T
LRG_1205:g.153519C>T
LRG_1205p1:p.Arg941Ter
NC_000018.9:g.55322536G>A
NM_005603.4:c.2821C>T

Protein change:

R891*

Links:

dbSNP: rs374340059

NCBI 1000 Genomes Browser:

rs374340059

Molecular consequence:

NM_001374385.1:c.2821C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001374386.1:c.2671C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_005603.6:c.2821C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV002556366	Genetics and Molecular Pathology, SA Pathology See additional submitters Shariant Australia, Australian Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 16, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002556366

Genetics and Molecular Pathology, SA Pathology

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 16, 2021)

germline

clinical testing

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	yes	not provided	not provided	not provided	not provided	not provided	clinical 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 Genetics and Molecular Pathology, SA Pathology, SCV002556366.2

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

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

Last Updated: Nov 3, 2024

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