NM_003742.4(ABCB11):c.3169C>T (p.Arg1057Ter) AND Progressive familial intrahepatic cholestasis type 2

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Nov 2, 2017
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:: RCV000006975.4

Allele description [Variation Report for NM_003742.4(ABCB11):c.3169C>T (p.Arg1057Ter)]

NM_003742.4(ABCB11):c.3169C>T (p.Arg1057Ter)

Gene:

ABCB11:ATP binding cassette subfamily B member 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.1

Genomic location:

Preferred name:

NM_003742.4(ABCB11):c.3169C>T (p.Arg1057Ter)

HGVS:

NC_000002.12:g.168932421G>A
NG_007374.2:g.103976C>T
NM_003742.4:c.3169C>TMANE SELECT
NP_003733.2:p.Arg1057Ter
LRG_1199t1:c.3169C>T
LRG_1199:g.103976C>T
LRG_1199p1:p.Arg1057Ter
NC_000002.11:g.169788931G>A
NG_007374.1:g.103903C>T
NM_003742.2:c.3169C>T

Protein change:

R1057*; ARG1057TER

Links:

OMIM: 603201.0007; dbSNP: rs72549397

NCBI 1000 Genomes Browser:

rs72549397

Molecular consequence:

NM_003742.4:c.3169C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Progressive familial intrahepatic cholestasis type 2
Identifiers:: MONDO: MONDO:0011156; MedGen: C3489789; Orphanet: 79304; OMIM: 601847

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000027171	OMIM	no assertion criteria provided	Pathogenic (Dec 1, 1999)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV002077888	Natera, Inc.	no assertion criteria provided	Pathogenic (Nov 2, 2017)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000027171

OMIM

no assertion criteria provided

Pathogenic
(Dec 1, 1999)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

SCV002077888

Natera, Inc.

no assertion criteria provided

Pathogenic
(Nov 2, 2017)

germline

clinical testing

Help

Summary from all submissions

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

Citations

PubMed

Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis.

Jansen PL, Strautnieks SS, Jacquemin E, Hadchouel M, Sokal EM, Hooiveld GJ, Koning JH, De Jager-Krikken A, Kuipers F, Stellaard F, Bijleveld CM, Gouw A, Van Goor H, Thompson RJ, Müller M.

Gastroenterology. 1999 Dec;117(6):1370-9.

PubMed [citation]

PMID:: 10579978

Details of each submission

From OMIM, SCV000027171.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a patient with progressive familial intrahepatic cholestasis (PFIC2; 601847), Jansen et al. (1999) identified compound heterozygosity for 2 mutations in the ABCB11 gene: arg1057-to-ter (R1057X) and E297G (603201.0002). Immunohistochemistry showed absence of the BSEP protein in liver.

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

From Natera, Inc., SCV002077888.1

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

#	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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