NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr) AND ATP8B1-related disorder

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 13, 2024
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:: RCV004547464.1

Allele description

NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr)

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.1982T>C (p.Ile661Thr)

HGVS:

NC_000018.10:g.57669433A>G
NG_007148.3:g.139390T>C
NM_001374385.1:c.1982T>CMANE SELECT
NM_001374386.1:c.1832T>C
NM_005603.6:c.1982T>C
NP_001361314.1:p.Ile661Thr
NP_001361315.1:p.Ile611Thr
NP_005594.1:p.Ile661Thr
NP_005594.2:p.Ile661Thr
LRG_1205t1:c.1982T>C
LRG_1205:g.139390T>C
LRG_1205p1:p.Ile661Thr
NC_000018.9:g.55336665A>G
NM_005603.4:c.1982T>C
NM_005603.5:c.1982T>C
O43520:p.Ile661Thr

Protein change:

I611T; ILE661THR

Links:

UniProtKB: O43520#VAR_008812; OMIM: 602397.0006; dbSNP: rs121909100

NCBI 1000 Genomes Browser:

rs121909100

Molecular consequence:

NM_001374385.1:c.1982T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001374386.1:c.1832T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_005603.6:c.1982T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: ATP8B1-related disorder
Synonyms:: ATP8B1-Related Disorders; ATP8B1-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004114404	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 13, 2024)	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

SCV004114404

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Feb 13, 2024)

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	unknown	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 PreventionGenetics, part of Exact Sciences, SCV004114404.2

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

Description

The ATP8B1 c.1982T>C variant is predicted to result in the amino acid substitution p.Ile661Thr. This variant has been reported to be one of the most common causative variants responsible for benign recurrent intrahepatic cholestasis (Bull et al. 1998. PubMed ID: 9500542; Folmer et al. 2009. PubMed ID: 19731236; van der Velden et al. 2010. PubMed ID: 19918981). This variant is reported in 0.016% of alleles in individuals of European (Non-Finnish) descent in gnomAD. This variant is interpreted as pathogenic.

#	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: Sep 29, 2024

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