NM_000190.4(HMBS):c.91G>A (p.Ala31Thr) AND Acute intermittent porphyria

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 1994
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:: RCV000001519.7

Allele description [Variation Report for NM_000190.4(HMBS):c.91G>A (p.Ala31Thr)]

NM_000190.4(HMBS):c.91G>A (p.Ala31Thr)

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.91G>A (p.Ala31Thr)

HGVS:

NC_000011.10:g.119088638G>A
NG_008093.1:g.8762G>A
NM_000190.4:c.91G>AMANE SELECT
NM_001024382.2:c.40G>A
NM_001258208.2:c.91G>A
NM_001258209.2:c.40G>A
NP_000181.2:p.Ala31Thr
NP_001019553.1:p.Ala14Thr
NP_001245137.1:p.Ala31Thr
NP_001245138.1:p.Ala14Thr
LRG_1076t1:c.91G>A
LRG_1076t2:c.40G>A
LRG_1076:g.8762G>A
LRG_1076p1:p.Ala31Thr
LRG_1076p2:p.Ala14Thr
NC_000011.9:g.118959348G>A
P08397:p.Ala31Thr

Protein change:

A14T; ALA31THR

Links:

UniProtKB: P08397#VAR_003640; OMIM: 609806.0016; dbSNP: rs118204104

NCBI 1000 Genomes Browser:

rs118204104

Molecular consequence:

NM_000190.4:c.91G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001024382.2:c.40G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001258208.2:c.91G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001258209.2:c.40G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Acute intermittent porphyria (AIP)
Synonyms:: Porphobilinogen deaminase deficiency; Uroporphyrinogen synthase deficiency; UPS deficiency; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008294; MedGen: C0162565; Orphanet: 79276; OMIM: 176000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000021674	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 1994)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000021674

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 1994)

germline

literature only

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

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

Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis.

Gu XF, de Rooij F, Voortman G, Te Velde K, Deybach JC, Nordmann Y, Grandchamp B.

Hum Genet. 1994 Jan;93(1):47-52.

PubMed [citation]

PMID:: 8270254

Details of each submission

From OMIM, SCV000021674.5

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

Description

In a patient with CRM-positive acute intermittent porphyria (AIP; 176000), Gu et al. (1994) identified a c.91G-A transition in exon 4 of the HMBS gene, leading to an ala31-to-thr (A31T) substitution.

#	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 1, 2024

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