NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) AND Cholestasis, intrahepatic, of pregnancy 3

Clinical significance:Pathogenic (Last evaluated: Feb 18, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001003941.2

Allele description [Variation Report for NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)]

NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)

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.1529A>G (p.Asn510Ser)
HGVS:
  • NC_000007.14:g.87440230T>C
  • NG_007118.1:g.45203A>G
  • NG_007118.2:g.45203A>G
  • NM_000443.4:c.1529A>GMANE SELECT
  • NM_018849.3:c.1529A>G
  • NM_018850.2:c.1529A>G
  • NP_000434.1:p.Asn510Ser
  • NP_061337.1:p.Asn510Ser
  • NP_061338.1:p.Asn510Ser
  • NC_000007.13:g.87069546T>C
  • NM_000443.3:c.1529A>G
  • NM_018849.2:c.1529A>G
  • P21439:p.Asn510Ser
Protein change:
N510S
Links:
UniProtKB: P21439#VAR_073752; dbSNP: rs375315619
NCBI 1000 Genomes Browser:
rs375315619
Molecular consequence:
  • NM_000443.4:c.1529A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018849.3:c.1529A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018850.2:c.1529A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cholestasis, intrahepatic, of pregnancy 3 (ICP3)
Identifiers:
MONDO: MONDO:0013995; MedGen: C3554241; Orphanet: 69665; OMIM: 614972

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001161915NIHR Bioresource Rare Diseases, University of Cambridgeno assertion criteria providedLikely pathogenicunknownresearch

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

SCV001521454Baylor Geneticscriteria provided, single submitter
Pathogenic
(Feb 18, 2020)
unknownclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Citations

PubMed

Whole-genome sequencing of patients with rare diseases in a national health system.

Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, et al.

Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24.

PubMed [citation]
PMID:
32581362
PMCID:
PMC7610553

The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects.

Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E.

Semin Liver Dis. 2010 May;30(2):134-46. doi: 10.1055/s-0030-1253223. Epub 2010 Apr 26. Review.

PubMed [citation]
PMID:
20422496
See all PubMed Citations (8)

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV001161915.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

From Baylor Genetics, SCV001521454.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported as disease-causing [PMID: 20422496, 28776642, 26474921, 25807286, 23022423, 23533021, ClinVar ID: 291252]

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

Last Updated: Jul 10, 2021

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