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NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) AND not specified

Germline classification:
Benign (3 submissions)
Last evaluated:
May 3, 2017
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000078161.28

Allele description [Variation Report for NM_000152.5(GAA):c.1726G>A (p.Gly576Ser)]

NM_000152.5(GAA):c.1726G>A (p.Gly576Ser)

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.1726G>A (p.Gly576Ser)
HGVS:
  • NC_000017.11:g.80112072G>A
  • NG_009822.1:g.15517G>A
  • NM_000152.5:c.1726G>AMANE SELECT
  • NM_001079803.3:c.1726G>A
  • NM_001079804.3:c.1726G>A
  • NP_000143.2:p.Gly576Ser
  • NP_000143.2:p.Gly576Ser
  • NP_001073271.1:p.Gly576Ser
  • NP_001073272.1:p.Gly576Ser
  • LRG_673t1:c.1726G>A
  • LRG_673:g.15517G>A
  • LRG_673p1:p.Gly576Ser
  • NC_000017.10:g.78085871G>A
  • NM_000152.3:c.1726G>A
  • P10253:p.Gly576Ser
Protein change:
G576S
Links:
UniProtKB: P10253#VAR_004300; dbSNP: rs1800307
NCBI 1000 Genomes Browser:
rs1800307
Molecular consequence:
  • NM_000152.5:c.1726G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079803.3:c.1726G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079804.3:c.1726G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000109999Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Benign
(May 3, 2017)
germlineclinical testing

Citation Link,

SCV000151252Genetic Services Laboratory, University of Chicago
no assertion criteria provided
Likely benigngermlineclinical testing

SCV000302667PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benigngermlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Eurofins Ntd Llc (ga), SCV000109999.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From Genetic Services Laboratory, University of Chicago, SCV000151252.2

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

Description

Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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

From PreventionGenetics, part of Exact Sciences, SCV000302667.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024