NM_000190.4(HMBS):c.33+1G>T AND Porphyria, acute intermittent, nonerythroid variant

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 1, 1989
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:: RCV000001509.3

Allele description [Variation Report for NM_000190.4(HMBS):c.33+1G>T]

NM_000190.4(HMBS):c.33+1G>T

Gene:

HMBS:hydroxymethylbilane synthase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

Preferred name:

NM_000190.4(HMBS):c.33+1G>T

HGVS:

NC_000011.10:g.119085067G>T
NG_008093.1:g.5191G>T
NG_124181.1:g.686G>T
NM_000190.4:c.33+1G>TMANE SELECT
NM_001258208.2:c.33+1G>T
NM_001258209.2:c.-109G>T
LRG_1076t1:c.33+1G>T
LRG_1076:g.5191G>T
NC_000011.9:g.118955777G>T
NM_000190.3:c.33+1G>T

Note:

ClinGen staff contributed the HGVS expression for this variant.

Nucleotide change:

IVS1DS, G-T, +1

Links:

OMIM: 609806.0003; dbSNP: rs1565750784

NCBI 1000 Genomes Browser:

rs1565750784

Molecular consequence:

NM_001258209.2:c.-109G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000190.4:c.33+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001258208.2:c.33+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Porphyria, acute intermittent, nonerythroid variant
Identifiers:: MedGen: C1867969

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000021664	OMIM	no assertion criteria provided	Pathogenic (Oct 1, 1989)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 2511016, 2915972

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000021664

OMIM

no assertion criteria provided

Pathogenic
(Oct 1, 1989)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase.

Grandchamp B, Picat C, Kauppinen R, Mignotte V, Peltonen L, Mustajoki P, Roméo PH, Goossens M, Nordmann Y.

Eur J Clin Invest. 1989 Oct;19(5):415-8.

PubMed [citation]

PMID:: 2511016

A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia.

Vidaud M, Gattoni R, Stevenin J, Vidaud D, Amselem S, Chibani J, Rosa J, Goossens M.

Proc Natl Acad Sci U S A. 1989 Feb;86(3):1041-5.

PubMed [citation]

PMID:: 2915972
PMCID:: PMC286617

Details of each submission

From OMIM, SCV000021664.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a Finnish family with the nonerythroid variant of acute intermittent porphyria (AIP; 176000) Grandchamp et al. (1989) identified a G-to-T transversion in the 5-prime splice donor sequence of intron 1 of the HMBS gene. This is only 1 nucleotide removed from the mutation listed as 609806.0001, in which the change occurred in the first nucleotide of intron 1. Grandchamp et al. (1989) proposed that both of these mutations resulted in an abnormal splicing of primary transcripts initiated at the upstream promoter of the gene without affecting the expression of the PBGD gene in erythroid cells where the downstream promoter is utilized. A similar mutation located at the last position of exon 1 of the beta-globin gene was found by Vidaud et al. (1989) to be responsible for a splicing defect leading to beta-thalassemia.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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