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NM_000169.3(GLA):c.683A>G (p.Asn228Ser) AND Fabry disease

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 1, 2014
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:
RCV000209486.1

Allele description

NM_000169.3(GLA):c.683A>G (p.Asn228Ser)

Genes:
RPL36A-HNRNPH2:RPL36A-HNRNPH2 readthrough [Gene - HGNC]
GLA:galactosidase alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq22.1
Genomic location:
Preferred name:
NM_000169.3(GLA):c.683A>G (p.Asn228Ser)
HGVS:
  • NC_000023.11:g.101398903T>C
  • NG_007119.1:g.14061A>G
  • NM_000169.3:c.683A>GMANE SELECT
  • NM_001199973.2:c.300+3446T>C
  • NM_001199974.2:c.177+7081T>C
  • NP_000160.1:p.Asn228Ser
  • NP_000160.1:p.Asn228Ser
  • LRG_672t1:c.683A>G
  • LRG_672:g.14061A>G
  • LRG_672p1:p.Asn228Ser
  • NC_000023.10:g.100653891T>C
  • NM_000169.2:c.683A>G
  • NR_164783.1:n.762A>G
  • P06280:p.Asn228Ser
  • p.N228S
Protein change:
N228S
Links:
UniProtKB: P06280#VAR_077396; dbSNP: rs869312152
NCBI 1000 Genomes Browser:
rs869312152
Molecular consequence:
  • NM_001199973.2:c.300+3446T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001199974.2:c.177+7081T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000169.3:c.683A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_164783.1:n.762A>G - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000246065Albrecht-Kossel-Institute,Medical University Rostock
no assertion criteria provided
Uncertain significance
(Jan 1, 2014) 		inheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.

Lukas J, Scalia S, Eichler S, Pockrandt AM, Dehn N, Cozma C, Giese AK, Rolfs A.

Hum Mutat. 2016 Jan;37(1):43-51. doi: 10.1002/humu.22910. Epub 2015 Oct 27.

PubMed [citation]
PMID:
26415523

Details of each submission

From Albrecht-Kossel-Institute,Medical University Rostock, SCV000246065.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 5, 2022