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NM_001374385.1(ATP8B1):c.2164G>C (p.Ala722Pro) AND Benign recurrent intrahepatic cholestasis type 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 8, 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:
RCV003228211.1

Allele description

NM_001374385.1(ATP8B1):c.2164G>C (p.Ala722Pro)

Genes:
ATP8B1-AS1:ATP8B1 antisense RNA 1 [Gene - HGNC]
ATP8B1:ATPase phospholipid transporting 8B1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q21.31
Genomic location:
Preferred name:
NM_001374385.1(ATP8B1):c.2164G>C (p.Ala722Pro)
HGVS:
  • NC_000018.10:g.57668474C>G
  • NG_007148.3:g.140349G>C
  • NM_001242804.2:c.*299C>G
  • NM_001374385.1:c.2164G>CMANE SELECT
  • NM_001374386.1:c.2014G>C
  • NM_005603.6:c.2164G>C
  • NP_001361314.1:p.Ala722Pro
  • NP_001361315.1:p.Ala672Pro
  • NP_005594.2:p.Ala722Pro
  • LRG_1205t1:c.2164G>C
  • LRG_1205:g.140349G>C
  • LRG_1205p1:p.Ala722Pro
  • NC_000018.9:g.55335706C>G
  • NR_164148.1:n.1151C>G
Protein change:
A672P
Molecular consequence:
  • NM_001374385.1:c.2164G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374386.1:c.2014G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005603.6:c.2164G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_164148.1:n.1151C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Benign recurrent intrahepatic cholestasis type 1
Synonyms:
Summerskill syndrome; Recurrent familial intrahepatic cholestasis 1
Identifiers:
MONDO: MONDO:0009469; MedGen: C4551899; Orphanet: 65682; OMIM: 243300

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003924324Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(May 8, 2023) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

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 Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV003924324.1

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

Last Updated: May 27, 2023