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NM_000152.5(GAA):c.725C>A (p.Ala242Glu) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Sep 27, 2023
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:
RCV001507900.8

Allele description [Variation Report for NM_000152.5(GAA):c.725C>A (p.Ala242Glu)]

NM_000152.5(GAA):c.725C>A (p.Ala242Glu)

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.725C>A (p.Ala242Glu)
Other names:
NM_000152.5(GAA):c.725C>A
HGVS:
  • NC_000017.11:g.80107589C>A
  • NG_009822.1:g.11034C>A
  • NM_000152.5:c.725C>AMANE SELECT
  • NM_001079803.3:c.725C>A
  • NM_001079804.3:c.725C>A
  • NP_000143.2:p.Ala242Glu
  • NP_001073271.1:p.Ala242Glu
  • NP_001073272.1:p.Ala242Glu
  • LRG_673t1:c.725C>A
  • LRG_673:g.11034C>A
  • NC_000017.10:g.78081388C>A
  • NM_000152.3:c.725C>A
  • NM_000152.4:c.725C>A
  • p.Ala242Glu
Protein change:
A242E
Links:
dbSNP: rs745861849
NCBI 1000 Genomes Browser:
rs745861849
Molecular consequence:
  • NM_000152.5:c.725C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079803.3:c.725C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079804.3:c.725C>A - missense variant - [Sequence Ontology: SO:0001583]
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
SCV001713734Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Dec 21, 2020) 		germlineclinical testing

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

SCV003816217Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Sep 27, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not 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 Mayo Clinic Laboratories, Mayo Clinic, SCV001713734.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Revvity Omics, Revvity, SCV003816217.2

#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: Oct 20, 2024