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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 13, 2024
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:
RCV004547464.2

Allele description [Variation Report for NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr)]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004114404PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Feb 13, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004114404.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024