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NM_000190.4(HMBS):c.593G>A (p.Trp198Ter) AND Acute intermittent porphyria

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 1991
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:
RCV000001518.6

Allele description [Variation Report for NM_000190.4(HMBS):c.593G>A (p.Trp198Ter)]

NM_000190.4(HMBS):c.593G>A (p.Trp198Ter)

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.593G>A (p.Trp198Ter)
HGVS:
  • NC_000011.10:g.119091507G>A
  • NG_008093.1:g.11631G>A
  • NM_000190.4:c.593G>AMANE SELECT
  • NM_001024382.2:c.542G>A
  • NM_001258208.2:c.593G>A
  • NM_001258209.2:c.542G>A
  • NP_000181.2:p.Trp198Ter
  • NP_001019553.1:p.Trp181Ter
  • NP_001245137.1:p.Trp198Ter
  • NP_001245138.1:p.Trp181Ter
  • LRG_1076t1:c.593G>A
  • LRG_1076t2:c.542G>A
  • LRG_1076:g.11631G>A
  • LRG_1076p1:p.Trp198Ter
  • LRG_1076p2:p.Trp181Ter
  • NC_000011.9:g.118962217G>A
Protein change:
W181*; TRP198TER
Links:
OMIM: 609806.0012; dbSNP: rs118204100
NCBI 1000 Genomes Browser:
rs118204100
Molecular consequence:
  • NM_000190.4:c.593G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001024382.2:c.542G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001258208.2:c.593G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001258209.2:c.542G>A - nonsense - [Sequence Ontology: SO:0001587]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000021673OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 1991) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria.

Lee JS, Anvret M.

Proc Natl Acad Sci U S A. 1991 Dec 1;88(23):10912-5.

PubMed [citation]
PMID:
1961762
PMCID:
PMC53042

Details of each submission

From OMIM, SCV000021673.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In affected members of a northern Swedish (Lappland) family with acute intermittent porphyria (AIP; 176000), Lee and Anvret (1991) identified a G-to-A transition in exon 10 of the HMBS gene, resulting in a trp198-to-ter (W198X) substitution. The same mutation was found in 15 of 33 Swedish AIP families. Genealogic data showed that 12 of the 15 were related, indicating a founder effect.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024