NM_003742.4(ABCB11):c.2343+1G>T AND Progressive familial intrahepatic cholestasis type 2

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 16, 2020
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:: RCV001274996.1

Allele description [Variation Report for NM_003742.4(ABCB11):c.2343+1G>T]

NM_003742.4(ABCB11):c.2343+1G>T

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.2343+1G>T

HGVS:

NC_000002.12:g.168957963C>A
NG_007374.2:g.78434G>T
NM_003742.4:c.2343+1G>TMANE SELECT
LRG_1199t1:c.2343+1G>T
LRG_1199:g.78434G>T
NC_000002.11:g.169814473C>A
NM_003742.2:c.2343+1G>T

Links:

dbSNP: rs774411820

NCBI 1000 Genomes Browser:

rs774411820

Molecular consequence:

NM_003742.4:c.2343+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV001459645	Natera, Inc.	no assertion criteria provided	Likely pathogenic (Sep 16, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001459645

Natera, Inc.

no assertion criteria provided

Likely pathogenic
(Sep 16, 2020)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001459645.1

#	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: Oct 13, 2024

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