NM_000443.4(ABCB4):c.2784-12T>C AND Progressive familial intrahepatic cholestasis type 1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 6, 2020
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:: RCV000987906.3

Allele description [Variation Report for NM_000443.4(ABCB4):c.2784-12T>C]

NM_000443.4(ABCB4):c.2784-12T>C

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.2784-12T>C

HGVS:

NC_000007.14:g.87412045A>G
NG_007118.2:g.73388T>C
NM_000443.4:c.2784-12T>CMANE SELECT
NM_018849.3:c.2784-12T>C
NM_018850.3:c.2783+1572T>C
NC_000007.13:g.87041361A>G
NM_000443.3:c.2784-12T>C

Links:

dbSNP: rs201498350

NCBI 1000 Genomes Browser:

rs201498350

Molecular consequence:

NM_000443.4:c.2784-12T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_018849.3:c.2784-12T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_018850.3:c.2783+1572T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Progressive familial intrahepatic cholestasis type 1
Synonyms:: Byler's disease; Byler disease
Identifiers:: MONDO: MONDO:0008892; MedGen: C4551898; Orphanet: 79306; OMIM: 211600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001137399	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Likely pathogenic (Mar 6, 2020)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001137399

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Likely pathogenic
(Mar 6, 2020)

unknown

clinical testing

Citation Link

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

Details of each submission

From Mendelics, SCV001137399.2

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

Last Updated: Mar 23, 2024

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