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NM_005989.4(AKR1D1):c.157G>A (p.Asp53Asn) AND Congenital bile acid synthesis defect 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 21, 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:
RCV003235736.1

Allele description [Variation Report for NM_005989.4(AKR1D1):c.157G>A (p.Asp53Asn)]

NM_005989.4(AKR1D1):c.157G>A (p.Asp53Asn)

Gene:
AKR1D1:aldo-keto reductase family 1 member D1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q33
Genomic location:
Preferred name:
NM_005989.4(AKR1D1):c.157G>A (p.Asp53Asn)
HGVS:
  • NC_000007.14:g.138088664G>A
  • NG_023342.1:g.17233G>A
  • NM_001190906.2:c.157G>A
  • NM_001190907.2:c.157G>A
  • NM_005989.4:c.157G>AMANE SELECT
  • NP_001177835.1:p.Asp53Asn
  • NP_001177836.1:p.Asp53Asn
  • NP_005980.1:p.Asp53Asn
  • NC_000007.13:g.137773410G>A
Protein change:
D53N
Molecular consequence:
  • NM_001190906.2:c.157G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001190907.2:c.157G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005989.4:c.157G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Congenital bile acid synthesis defect 2 (CBAS2)
Synonyms:
Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
Identifiers:
MONDO: MONDO:0009339; MedGen: C1856127; Orphanet: 79303; OMIM: 235555

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003933664Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jun 21, 2023) 		inheritedclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
South East Asianinheritedyes1not 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 Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, SCV003933664.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1South East Asian1not providednot providedclinical testing PubMed (1)

Description

This homozygous variant c.157G>A (p.Asp53Asn) has been identified in a proband who presented with jaundice, high hepatic transaminases and failure to thrive. This variant is found in gnomAD-0.0012% and ExAc-0.0008%. This variant is also present in an 8 year old unaffected female sibling in the homozygous state.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024