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NM_000152.5(GAA):c.2510G>A (p.Arg837His) AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 6, 2022
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:
RCV002252081.2

Allele description [Variation Report for NM_000152.5(GAA):c.2510G>A (p.Arg837His)]

NM_000152.5(GAA):c.2510G>A (p.Arg837His)

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.2510G>A (p.Arg837His)
Other names:
NM_000152.5(GAA):c.2510G>A; p.Arg837His
HGVS:
  • NC_000017.11:g.80118221G>A
  • NG_009822.1:g.21666G>A
  • NM_000152.5:c.2510G>AMANE SELECT
  • NM_001079803.3:c.2510G>A
  • NM_001079804.3:c.2510G>A
  • NP_000143.2:p.Arg837His
  • NP_001073271.1:p.Arg837His
  • NP_001073272.1:p.Arg837His
  • LRG_673t1:c.2510G>A
  • LRG_673:g.21666G>A
  • NC_000017.10:g.78092020G>A
  • NM_000152.3:c.2510G>A
Protein change:
R837H
Links:
dbSNP: rs746095374
NCBI 1000 Genomes Browser:
rs746095374
Molecular consequence:
  • NM_000152.5:c.2510G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079803.3:c.2510G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079804.3:c.2510G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002523081Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 6, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot 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 Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV002523081.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

ACMG classification criteria: PM2, PP3

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

Last Updated: Sep 29, 2024