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NM_000375.3(UROS):c.660+4del AND Cutaneous porphyria

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 14, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003447879.2

Allele description [Variation Report for NM_000375.3(UROS):c.660+4del]

NM_000375.3(UROS):c.660+4del

Gene:
UROS:uroporphyrinogen III synthase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
10q26.2
Genomic location:
Preferred name:
NM_000375.3(UROS):c.660+4del
HGVS:
  • NC_000010.11:g.125794877del
  • NG_011557.2:g.33393del
  • NM_000375.3:c.660+4delMANE SELECT
  • NM_001324036.2:c.660+4del
  • NM_001324037.2:c.579+4del
  • NM_001324038.2:c.579+4del
  • LRG_1081t1:c.660+4del
  • LRG_1081:g.33393del
  • NC_000010.10:g.127483446del
Molecular consequence:
  • NM_000375.3:c.660+4del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001324036.2:c.660+4del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001324037.2:c.579+4del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001324038.2:c.579+4del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Cutaneous porphyria (CEP)
Synonyms:
GUNTHER DISEASE; Porphyria, Erythropoietic; Congenital porphyria; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009902; MedGen: C0162530; Orphanet: 79277; OMIM: 263700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004175807Neuberg Centre For Genomic Medicine, NCGM
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 14, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Neuberg Centre For Genomic Medicine, NCGM, SCV004175807.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The splice region c.660+4del variant in UROS gene has been reported in homozygous state in an individual affected with Porphyria (Weiss Y, et. al., 2019). The c.660+4del variant has been reported with allele frequency of 0.002% in gnomAD and is novel (not in any individuals) in 1000 Genomes. This variant has not been reported to the ClinVar database. Splice AI predicts this variant to cause splice donor loss (0.31). Additional functional studies will be required to prove the pathogenicity of this variant. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).

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

Last Updated: Apr 6, 2024