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NM_012205.3(HAAO):c.141C>A (p.His47Gln) AND Congenital NAD deficiency disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 11, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001391058.1

Allele description [Variation Report for NM_012205.3(HAAO):c.141C>A (p.His47Gln)]

NM_012205.3(HAAO):c.141C>A (p.His47Gln)

Gene:
HAAO:3-hydroxyanthranilate 3,4-dioxygenase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_012205.3(HAAO):c.141C>A (p.His47Gln)
HGVS:
  • NC_000002.12:g.42788547G>T
  • NM_012205.3:c.141C>AMANE SELECT
  • NP_036337.2:p.His47Gln
  • NC_000002.11:g.43015687G>T
Protein change:
H47Q; HIS47GLN
Links:
OMIM: 604521.0004; dbSNP: rs746702852
NCBI 1000 Genomes Browser:
rs746702852
Molecular consequence:
  • NM_012205.3:c.141C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital NAD deficiency disorder
Identifiers:
MedGen: CN241975

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001449130Embryology Laboratory, Victor Chang Cardiac Research Institute
no assertion criteria provided
Pathogenic
(Nov 11, 2020) 		inheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot provided1not providedresearch

Citations

PubMed

New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder.

Szot JO, Slavotinek A, Chong K, Brandau O, Nezarati M, Cueto-González AM, Patel MS, Devine WP, Rego S, Acyinena AP, Shannon P, Myles-Reid D, Blaser S, Mieghem TV, Yavuz-Kienle H, Skladny H, Miller K, Riera MDT, Martínez SA, Tizzano EF, Dupuis L, James Stavropoulos D, et al.

Hum Mutat. 2021 Jul;42(7):862-876. doi: 10.1002/humu.24211. Epub 2021 May 16.

PubMed [citation]
PMID:
33942433
PMCID:
PMC8238843

Details of each submission

From Embryology Laboratory, Victor Chang Cardiac Research Institute, SCV001449130.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)

Description

This variant, c.141C>A, was found in compound heterozygosity with the pathogenic variant c.128G>A

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyes1not provideddiscovery1not providednot providednot provided

Last Updated: Dec 24, 2023