NM_001374385.1(ATP8B1):c.1943del (p.Asn648fs) AND Benign recurrent intrahepatic cholestasis type 1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 2, 2023
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:: RCV003474257.1

Allele description [Variation Report for NM_001374385.1(ATP8B1):c.1943del (p.Asn648fs)]

NM_001374385.1(ATP8B1):c.1943del (p.Asn648fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

18q21.31

Genomic location:

Preferred name:

NM_001374385.1(ATP8B1):c.1943del (p.Asn648fs)

HGVS:

NC_000018.10:g.57669474del
NG_007148.3:g.139351del
NM_001374385.1:c.1943delMANE SELECT
NM_001374386.1:c.1793del
NM_005603.6:c.1943del
NP_001361314.1:p.Asn648fs
NP_001361315.1:p.Asn598fs
NP_005594.2:p.Asn648fs
LRG_1205t1:c.1943del
LRG_1205:g.139351del
LRG_1205p1:p.Asn648fs
NC_000018.9:g.55336706del

Protein change:

N598fs

Molecular consequence:

NM_001374385.1:c.1943del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374386.1:c.1793del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_005603.6:c.1943del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Benign recurrent intrahepatic cholestasis type 1
Synonyms:: Summerskill syndrome; Recurrent familial intrahepatic cholestasis 1
Identifiers:: MONDO: MONDO:0009469; MedGen: C4551899; Orphanet: 65682; OMIM: 243300

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004210723	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jul 2, 2023)	unknown	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

SCV004210723

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jul 2, 2023)

unknown

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	unknown	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 Baylor Genetics, SCV004210723.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 30, 2023

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