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NM_000152.5(GAA):c.2574C>G (p.Phe858Leu) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 18, 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:
RCV002452790.2

Allele description [Variation Report for NM_000152.5(GAA):c.2574C>G (p.Phe858Leu)]

NM_000152.5(GAA):c.2574C>G (p.Phe858Leu)

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.2574C>G (p.Phe858Leu)
HGVS:
  • NC_000017.11:g.80118285C>G
  • NG_009822.1:g.21730C>G
  • NM_000152.5:c.2574C>GMANE SELECT
  • NM_001079803.3:c.2574C>G
  • NM_001079804.3:c.2574C>G
  • NM_001406741.1:c.2574C>G
  • NM_001406742.1:c.2574C>G
  • NP_000143.2:p.Phe858Leu
  • NP_000143.2:p.Phe858Leu
  • NP_001073271.1:p.Phe858Leu
  • NP_001073272.1:p.Phe858Leu
  • NP_001393670.1:p.Phe858Leu
  • NP_001393671.1:p.Phe858Leu
  • LRG_673t1:c.2574C>G
  • LRG_673:g.21730C>G
  • LRG_673p1:p.Phe858Leu
  • NC_000017.10:g.78092084C>G
  • NM_000152.3:c.2574C>G
Protein change:
F858L
Molecular consequence:
  • NM_000152.5:c.2574C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079803.3:c.2574C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079804.3:c.2574C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406741.1:c.2574C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406742.1:c.2574C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002738924Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 18, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002738924.2

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

Description

The p.F858L variant (also known as c.2574C>G), located in coding exon 17 of the GAA gene, results from a C to G substitution at nucleotide position 2574. The phenylalanine at codon 858 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: May 1, 2024