NM_003742.4(ABCB11):c.3169C>T (p.Arg1057Ter) AND Benign recurrent intrahepatic cholestasis type 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 12, 2023
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:: RCV003472993.1

Allele description [Variation Report for NM_003742.4(ABCB11):c.3169C>T (p.Arg1057Ter)]

NM_003742.4(ABCB11):c.3169C>T (p.Arg1057Ter)

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.3169C>T (p.Arg1057Ter)

HGVS:

NC_000002.12:g.168932421G>A
NG_007374.2:g.103976C>T
NM_003742.4:c.3169C>TMANE SELECT
NP_003733.2:p.Arg1057Ter
LRG_1199t1:c.3169C>T
LRG_1199:g.103976C>T
LRG_1199p1:p.Arg1057Ter
NC_000002.11:g.169788931G>A
NG_007374.1:g.103903C>T
NM_003742.2:c.3169C>T

Protein change:

R1057*; ARG1057TER

Links:

OMIM: 603201.0007; dbSNP: rs72549397

NCBI 1000 Genomes Browser:

rs72549397

Molecular consequence:

NM_003742.4:c.3169C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Benign recurrent intrahepatic cholestasis type 2 (BRIC2)
Synonyms:: Recurrent familial intrahepatic cholestasis 2
Identifiers:: MONDO: MONDO:0011559; MedGen: C2608083; Orphanet: 65682; OMIM: 605479

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004210703	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 12, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004210703

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Sep 12, 2023)

unknown

clinical testing

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Baylor Genetics, SCV004210703.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	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: Sep 29, 2024

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