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NM_000140.5(FECH):c.314+2T>G AND Protoporphyria, erythropoietic, 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 1998
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:
RCV000000585.5

Allele description [Variation Report for NM_000140.5(FECH):c.314+2T>G]

NM_000140.5(FECH):c.314+2T>G

Gene:
FECH:ferrochelatase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q21.31
Genomic location:
Preferred name:
NM_000140.5(FECH):c.314+2T>G
HGVS:
  • NC_000018.10:g.57573244A>C
  • NG_008175.1:g.18494T>G
  • NM_000140.5:c.314+2T>GMANE SELECT
  • NM_001012515.4:c.332+2T>G
  • NM_001371094.1:c.314+2T>G
  • NM_001371095.1:c.98+2T>G
  • NM_001374778.1:c.314+2T>G
  • LRG_1080t1:c.314+2T>G
  • LRG_1080t2:c.332+2T>G
  • LRG_1080:g.18494T>G
  • NC_000018.9:g.55240476A>C
  • NM_000140.3:c.314+2T>G
Nucleotide change:
IVS3DS, T-G, +2
Links:
OMIM: 612386.0008; dbSNP: rs149067146
NCBI 1000 Genomes Browser:
rs149067146
Molecular consequence:
  • NM_000140.5:c.314+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001012515.4:c.332+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001371094.1:c.314+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001371095.1:c.98+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001374778.1:c.314+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Protoporphyria, erythropoietic, 1 (EPP1)
Synonyms:
Heme synthetase deficiency; Ferrochelatase deficiency; Erythropoietic Protoporphyria, Autosomal Recessive
Identifiers:
MONDO: MONDO:0008319; MedGen: C4692546; Orphanet: 79278; OMIM: 177000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000020734OMIM
no assertion criteria provided
Pathogenic
(Jul 1, 1998) 		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

Molecular defects in ferrochelatase in patients with protoporphyria requiring liver transplantation.

Bloomer J, Bruzzone C, Zhu L, Scarlett Y, Magness S, Brenner D.

J Clin Invest. 1998 Jul 1;102(1):107-14.

PubMed [citation]
PMID:
9649563
PMCID:
PMC509071

Details of each submission

From OMIM, SCV000020734.4

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

Description

In 2 unrelated patients with erythropoietic protoporphyria (EPP1; 177000) who had undergone liver transplantation, Bloomer et al. (1998) found a splice site mutation in heterozygous state (IVS3+2T-G) in the FECH gene, resulting in deletion of exon 3 (amino acids 66-105).

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

Last Updated: Feb 20, 2024