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NM_000169.3(GLA):c.370-530_1279del AND Fabry disease

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 5, 1990
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:
RCV000011507.6

Allele description [Variation Report for NM_000169.3(GLA):c.370-530_1279del]

NM_000169.3(GLA):c.370-530_1279del

Genes:
RPL36A-HNRNPH2:RPL36A-HNRNPH2 readthrough [Gene - HGNC]
GLA:galactosidase alpha [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq22.1
Genomic location:
Preferred name:
NM_000169.3(GLA):c.370-530_1279del
HGVS:
  • NC_000023.11:g.101397823_101402342del
  • NG_007119.1:g.10625_15144del
  • NM_000169.3:c.370-530_1279delMANE SELECT
  • NM_001199973.2:c.300+2366_300+6885del
  • NM_001199974.2:c.177+6001_178-9594del
  • LRG_672:g.10625_15144del
  • NC_000023.10:g.100652811_100657330del
Note:
NCBI staff provided HGVS expressions for allelic variant 300644.0048 from the sequence across the breakpoint reported in Figure 2 of the paper by Kornreich et al., 1990 (PubMed 2160973).
Nucleotide change:
EX3-7DEL
Links:
OMIM: 300644.0048
Molecular consequence:
  • NM_001199973.2:c.300+2366_300+6885del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001199974.2:c.177+6001_178-9594del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000169.3:c.370-530_1279del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_000169.3:c.370-530_1279del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Fabry disease
Synonyms:
Angiokeratoma, diffuse; Anderson-Fabry disease; Hereditary dystopic lipidosis; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010526; MedGen: C0002986; Orphanet: 324; OMIM: 301500; Human Phenotype Ontology: HP:0001071

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000031739OMIM
no assertion criteria provided
Pathogenic
(Jun 5, 1990) 		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

Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene.

Kornreich R, Bishop DF, Desnick RJ.

J Biol Chem. 1990 Jun 5;265(16):9319-26.

PubMed [citation]
PMID:
2160973

Details of each submission

From OMIM, SCV000031739.1

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

Description

In an English patient with severe Fabry disease (301500), Kornreich et al. (1990) found a 4.5-kb deletion in the GLA gene that included exons 3 to 6 and a portion of exon 7. The deletion breakpoints had an AAG direct repeat suggesting a possible functional role of this short sequence in illegitimate recombination.

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

Last Updated: Apr 15, 2024