NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) AND Cholestasis, intrahepatic, of pregnancy, 3

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Oct 1, 2009
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:: RCV000033065.28

Allele description [Variation Report for NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)]

NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)

Gene:

ABCB4:ATP binding cassette subfamily B member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.12

Genomic location:

Preferred name:

NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)

HGVS:

NC_000007.14:g.87447080G>A
NG_007118.2:g.38353C>T
NM_000443.4:c.959C>TMANE SELECT
NM_018849.3:c.959C>T
NM_018850.3:c.959C>T
NP_000434.1:p.Ser320Phe
NP_061337.1:p.Ser320Phe
NP_061338.1:p.Ser320Phe
NC_000007.13:g.87076396G>A
NM_000443.3:c.959C>T
NM_018849.2:c.959C>T
P21439:p.Ser320Phe

Protein change:

S320F; SER320PHE

Links:

UniProtKB: P21439#VAR_023502; OMIM: 171060.0005; dbSNP: rs72552778

NCBI 1000 Genomes Browser:

rs72552778

Molecular consequence:

NM_000443.4:c.959C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_018849.3:c.959C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_018850.3:c.959C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cholestasis, intrahepatic, of pregnancy, 3
Identifiers:: MONDO: MONDO:0013995; MedGen: C3554241; Orphanet: 69665; OMIM: 614972

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000056845	OMIM	no assertion criteria provided	Pathogenic (Oct 1, 2009)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 11313316, 19584064
SCV001161919	NIHR Bioresource Rare Diseases, University of Cambridge	no assertion criteria provided	Pathogenic	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000056845

OMIM

no assertion criteria provided

Pathogenic
(Oct 1, 2009)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

SCV001161919

NIHR Bioresource Rare Diseases, University of Cambridge

no assertion criteria provided

Pathogenic

unknown

research

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	unknown	yes	2	not provided	not provided	2	not provided	research

Citations

PubMed

MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis.

Rosmorduc O, Hermelin B, Poupon R.

Gastroenterology. 2001 May;120(6):1459-67.

PubMed [citation]

PMID:: 11313316

ABCB4 gene mutations and single-nucleotide polymorphisms in women with intrahepatic cholestasis of pregnancy.

Bacq Y, Gendrot C, Perrotin F, Lefrou L, Chrétien S, Vie-Buret V, Brechot MC, Andres CR.

J Med Genet. 2009 Oct;46(10):711-5. doi: 10.1136/jmg.2009.067397. Epub 2009 Jul 6.

PubMed [citation]

PMID:: 19584064

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000056845.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a woman with gallbladder disease-1 (GBD1; 600803) presenting as chronic low phospholipid-associated cholelithiasis (LPAC), which worsened during pregnancy, Rosmorduc et al. (2001) identified a homozygous 959C-T transition in exon 9 of the ABCB4 gene, resulting in a ser320-to-phe (S320F) substitution. An unrelated woman with oral contraceptive-induced cholelithiasis (OCIC; see 614972) was also found to carry a homozygous S320F substitution. Unaffected family members in both families were heterozygous for the mutation.

Bacq et al. (2009) identified a heterozygous S320F mutation in 1 of 50 French women with intrahepatic cholestasis of pregnancy (ICP3; 614972). The mutation was not found in 214 control chromosomes. The S320F mutation occurred in transmembrane domain-5.

#	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 NIHR Bioresource Rare Diseases, University of Cambridge, SCV001161919.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (1)
2	not provided	1	not provided	not provided	research	PubMed (1)

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

Last Updated: Nov 3, 2024

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