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NM_003742.4(ABCB11):c.2519T>G (p.Leu840Arg) AND Progressive familial intrahepatic cholestasis type 2

Germline classification:
Uncertain significance (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:
RCV003337784.3

Allele description [Variation Report for NM_003742.4(ABCB11):c.2519T>G (p.Leu840Arg)]

NM_003742.4(ABCB11):c.2519T>G (p.Leu840Arg)

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.2519T>G (p.Leu840Arg)
HGVS:
  • NC_000002.12:g.168944696A>C
  • NG_007374.2:g.91701T>G
  • NM_003742.4:c.2519T>GMANE SELECT
  • NP_003733.2:p.Leu840Arg
  • LRG_1199t1:c.2519T>G
  • LRG_1199:g.91701T>G
  • LRG_1199p1:p.Leu840Arg
  • NC_000002.11:g.169801206A>C
Protein change:
L840R
Molecular consequence:
  • NM_003742.4:c.2519T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Progressive familial intrahepatic cholestasis type 2
Identifiers:
MONDO: MONDO:0011156; MedGen: C3489789; Orphanet: 79304; OMIM: 601847

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004048062Neuberg Centre For Genomic Medicine, NCGM
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significancegermlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical 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 Neuberg Centre For Genomic Medicine, NCGM, SCV004048062.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The missense variant in c.2519T>G(p.Leu840Arg) in ABCB11 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Leu840Arg variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid change p.Leu840Arg in ABCB11 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Leu at position 840 is changed to a Arg changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance (VUS).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024