NM_000152.5(GAA):c.2571G>T (p.Leu857=) AND not provided

Clinical significance:Benign (Last evaluated: Jan 9, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_000152.5(GAA):c.2571G>T (p.Leu857=)]

NM_000152.5(GAA):c.2571G>T (p.Leu857=)

GAA:alpha glucosidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_000152.5(GAA):c.2571G>T (p.Leu857=)
  • NC_000017.11:g.80118282G>T
  • NG_009822.1:g.21727G>T
  • NM_000152.5:c.2571G>TMANE SELECT
  • NM_001079803.3:c.2571G>T
  • NM_001079804.3:c.2571G>T
  • NP_000143.2:p.Leu857=
  • NP_001073271.1:p.Leu857=
  • NP_001073272.1:p.Leu857=
  • LRG_673t1:c.2571G>T
  • LRG_673:g.21727G>T
  • NC_000017.10:g.78092081G>T
  • NM_000152.3:c.2571G>T
dbSNP: rs17853996
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000152.5:c.2571G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001079803.3:c.2571G>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001079804.3:c.2571G>T - synonymous variant - [Sequence Ontology: SO:0001819]


MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000695656Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
(Jan 9, 2017)
germlineclinical testing

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000695656.1

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


Variant summary: The GAA c.2571G>T (p.Leu857Leu) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 125/115766 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.0119071 (122/10246). This frequency is about 3 times the estimated maximal expected allele frequency of a pathogenic GAA variant (0.0042205), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.

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

Last Updated: Jun 14, 2021

Support Center