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NM_000169.3(GLA):c.146G>C (p.Arg49Pro) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 2, 2012
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:
RCV000078270.15

Allele description [Variation Report for NM_000169.3(GLA):c.146G>C (p.Arg49Pro)]

NM_000169.3(GLA):c.146G>C (p.Arg49Pro)

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.146G>C (p.Arg49Pro)
HGVS:
  • NC_000023.11:g.101407758C>G
  • NG_007119.1:g.5206G>C
  • NG_016327.1:g.4556C>G
  • NM_000169.3:c.146G>CMANE SELECT
  • NM_001199973.2:c.301-4178C>G
  • NM_001199974.2:c.178-4178C>G
  • NM_001406747.1:c.146G>C
  • NM_001406748.1:c.146G>C
  • NM_001406749.1:c.146G>C
  • NP_000160.1:p.Arg49Pro
  • NP_000160.1:p.Arg49Pro
  • NP_001393676.1:p.Arg49Pro
  • NP_001393677.1:p.Arg49Pro
  • NP_001393678.1:p.Arg49Pro
  • LRG_672t1:c.146G>C
  • LRG_672:g.5206G>C
  • LRG_672p1:p.Arg49Pro
  • NC_000023.10:g.100662746C>G
  • NM_000169.2:c.146G>C
  • NR_164783.1:n.168G>C
  • NR_176252.1:n.168G>C
  • NR_176253.1:n.168G>C
  • P06280:p.Arg49Pro
Links:
UniProtKB: P06280#VAR_012370; dbSNP: rs398123205
NCBI 1000 Genomes Browser:
rs398123205
Molecular consequence:
  • NM_001199973.2:c.301-4178C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001199974.2:c.178-4178C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000169.3:c.146G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406747.1:c.146G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406748.1:c.146G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406749.1:c.146G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_164783.1:n.168G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176252.1:n.168G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_176253.1:n.168G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000110110Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Likely pathogenic
(Aug 2, 2012) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000110110.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 3, 2024