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NM_000169.3(GLA):c.80del (p.Pro27fs) AND Fabry disease

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 15, 2021
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:
RCV001807107.3

Allele description [Variation Report for NM_000169.3(GLA):c.80del (p.Pro27fs)]

NM_000169.3(GLA):c.80del (p.Pro27fs)

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.80del (p.Pro27fs)
HGVS:
  • NC_000023.11:g.101407826del
  • NG_007119.1:g.5140del
  • NG_016327.1:g.4624del
  • NM_000169.3:c.80delMANE SELECT
  • NM_001199973.2:c.301-4110del
  • NM_001199974.2:c.178-4110del
  • NM_001406747.1:c.80del
  • NM_001406748.1:c.80del
  • NM_001406749.1:c.80del
  • NP_000160.1:p.Pro27Leufs
  • NP_000160.1:p.Pro27fs
  • NP_001393676.1:p.Pro27fs
  • NP_001393677.1:p.Pro27fs
  • NP_001393678.1:p.Pro27fs
  • LRG_672t1:c.78del
  • LRG_672:g.5140del
  • LRG_672p1:p.Pro27Leufs
  • NC_000023.10:g.100662814del
  • NM_000169.2:c.78delC
  • NM_000169.2:c.80delC
  • NR_164783.1:n.102del
  • NR_176252.1:n.102del
  • NR_176253.1:n.102del
  • p.P27LfsX94
Protein change:
P27fs
Links:
dbSNP: rs730880454
NCBI 1000 Genomes Browser:
rs730880454
Molecular consequence:
  • NM_000169.3:c.80del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406747.1:c.80del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406748.1:c.80del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406749.1:c.80del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001199973.2:c.301-4110del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001199974.2:c.178-4110del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_164783.1:n.102del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176252.1:n.102del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176253.1:n.102del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002054464Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Jul 15, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot 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 Genome-Nilou Lab, SCV002054464.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024