NM_000452.3(SLC10A2):c.584_585+1inv AND Bile acid malabsorption, primary, 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 15, 1997
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:: RCV000008725.6

Allele description [Variation Report for NM_000452.3(SLC10A2):c.584_585+1inv]

NM_000452.3(SLC10A2):c.584_585+1inv

Gene:

SLC10A2:solute carrier family 10 member 2 [Gene - OMIM - HGNC]

Variant type:

Inversion

Cytogenetic location:

13q33.1

Genomic location:

Preferred name:

NM_000452.3(SLC10A2):c.584_585+1inv

HGVS:

NC_000013.11:g.103052619_103052621inv
NG_016648.1:g.19226_19228inv
NM_000452.3:c.584_585+1invMANE SELECT
NC_000013.10:g.103704969_103704971inv
NG_016648.1:g.19226_19228delAAGinsCTT

Links:

OMIM: 601295.0002

Molecular consequence:

NM_000452.3:c.584_585+1inv - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Bile acid malabsorption, primary, 1 (PBAM1)
Synonyms:: Bile acid malabsorption, primary
Identifiers:: MONDO: MONDO:0013214; MedGen: C5561934; OMIM: 613291

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000028934	OMIM	no assertion criteria provided	Pathogenic (Apr 15, 1997)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000028934

OMIM

no assertion criteria provided

Pathogenic
(Apr 15, 1997)

germline

literature only

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

Citations

PubMed

Primary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2).

Oelkers P, Kirby LC, Heubi JE, Dawson PA.

J Clin Invest. 1997 Apr 15;99(8):1880-7.

PubMed [citation]

PMID:: 9109432
PMCID:: PMC508012

Details of each submission

From OMIM, SCV000028934.4

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

Description

For discussion of the splice site mutation in intron 3 of the SLC10A2 gene (AAg-CTt) that was found in compound heterozygous state in a patient with primary bile acid malabsorption (PBAM; 613291) by Oelkers et al. (1997), see 601295.0001.

#	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

Last Updated: Aug 5, 2023

ClinVar

Relating variation to medicine