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NM_003742.4(ABCB11):c.2542del (p.Asp848fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 10, 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:
RCV003779097.1

Allele description [Variation Report for NM_003742.4(ABCB11):c.2542del (p.Asp848fs)]

NM_003742.4(ABCB11):c.2542del (p.Asp848fs)

Gene:
ABCB11:ATP binding cassette subfamily B member 11 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q31.1
Genomic location:
Preferred name:
NM_003742.4(ABCB11):c.2542del (p.Asp848fs)
HGVS:
  • NC_000002.12:g.168944673del
  • NG_007374.2:g.91724del
  • NM_003742.4:c.2542delMANE SELECT
  • NP_003733.2:p.Asp848fs
  • LRG_1199t1:c.2542del
  • LRG_1199:g.91724del
  • LRG_1199p1:p.Asp848fs
  • NC_000002.11:g.169801183del
Protein change:
D848fs
Molecular consequence:
  • NM_003742.4:c.2542del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004655137Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Nov 10, 2023) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.

Strautnieks SS, Byrne JA, Pawlikowska L, Cebecauerová D, Rayner A, Dutton L, Meier Y, Antoniou A, Stieger B, Arnell H, Ozçay F, Al-Hussaini HF, Bassas AF, Verkade HJ, Fischler B, Németh A, Kotalová R, Shneider BL, Cielecka-Kuszyk J, McClean P, Whitington PF, Sokal E, et al.

Gastroenterology. 2008 Apr;134(4):1203-14. doi: 10.1053/j.gastro.2008.01.038. Epub 2008 Jan 18.

PubMed [citation]
PMID:
18395098

ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history.

Davit-Spraul A, Fabre M, Branchereau S, Baussan C, Gonzales E, Stieger B, Bernard O, Jacquemin E.

Hepatology. 2010 May;51(5):1645-55. doi: 10.1002/hep.23539.

PubMed [citation]
PMID:
20232290
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV004655137.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Asp848Metfs*10) in the ABCB11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCB11 are known to be pathogenic (PMID: 18395098, 20232290). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with ABCB11-related conditions (PMID: 34016879). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Mar 5, 2024