NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys) AND Progressive familial intrahepatic cholestasis type 3

Germline classification:: Pathogenic (1 submission)
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:: RCV001261597.1

Allele description [Variation Report for NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys)]

NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys)

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.2494C>T (p.Arg832Cys)

HGVS:

NC_000002.12:g.168944721G>A
NG_007374.2:g.91676C>T
NM_003742.4:c.2494C>TMANE SELECT
NP_003733.2:p.Arg832Cys
LRG_1199t1:c.2494C>T
LRG_1199:g.91676C>T
LRG_1199p1:p.Arg832Cys
NC_000002.11:g.169801231G>A
NG_007374.1:g.91603C>T
NM_003742.2:c.2494C>T

Protein change:

R832C

Links:

dbSNP: rs772294884

NCBI 1000 Genomes Browser:

rs772294884

Molecular consequence:

NM_003742.4:c.2494C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Progressive familial intrahepatic cholestasis type 3
Synonyms:: Progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase; MDR3 deficiency; Low Gamma-GT Familial Intrahepatic Cholestasis
Identifiers:: MONDO: MONDO:0011214; MedGen: C1865643; Orphanet: 79305; OMIM: 602347

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001438872	Pathology and Clinical Laboratory Medicine, King Fahad Medical City	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001438872

Pathology and Clinical Laboratory Medicine, King Fahad Medical City

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Arab	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Pathology and Clinical Laboratory Medicine, King Fahad Medical City, SCV001438872.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Arab	2	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	yes	not provided	not provided	not provided		2	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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