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NM_000152.5(GAA):c.1536C>A (p.Phe512Leu) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 3, 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:
RCV003302728.2

Allele description [Variation Report for NM_000152.5(GAA):c.1536C>A (p.Phe512Leu)]

NM_000152.5(GAA):c.1536C>A (p.Phe512Leu)

Gene:
GAA:alpha glucosidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_000152.5(GAA):c.1536C>A (p.Phe512Leu)
HGVS:
  • NC_000017.11:g.80110825C>A
  • NG_009822.1:g.14270C>A
  • NM_000152.5:c.1536C>AMANE SELECT
  • NM_001079803.3:c.1536C>A
  • NM_001079804.3:c.1536C>A
  • NP_000143.2:p.Phe512Leu
  • NP_001073271.1:p.Phe512Leu
  • NP_001073272.1:p.Phe512Leu
  • LRG_673t1:c.1536C>A
  • LRG_673:g.14270C>A
  • NC_000017.10:g.78084624C>A
  • NM_000152.3:c.1536C>A
Protein change:
F512L
Links:
dbSNP: rs143491365
NCBI 1000 Genomes Browser:
rs143491365
Molecular consequence:
  • NM_000152.5:c.1536C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079803.3:c.1536C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079804.3:c.1536C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004001309Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 3, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004001309.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.F512L variant (also known as c.1536C>A), located in coding exon 9 of the GAA gene, results from a C to A substitution at nucleotide position 1536. The phenylalanine at codon 512 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024