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NM_000152.5(GAA):c.2736G>A (p.Ala912=) AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Jul 13, 2020
Review status:
criteria provided, conflicting classifications
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:
RCV000726791.18

Allele description [Variation Report for NM_000152.5(GAA):c.2736G>A (p.Ala912=)]

NM_000152.5(GAA):c.2736G>A (p.Ala912=)

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.2736G>A (p.Ala912=)
HGVS:
  • NC_000017.11:g.80118742G>A
  • NG_009822.1:g.22187G>A
  • NM_000152.5:c.2736G>AMANE SELECT
  • NM_001079803.3:c.2736G>A
  • NM_001079804.3:c.2736G>A
  • NP_000143.2:p.Ala912=
  • NP_001073271.1:p.Ala912=
  • NP_001073272.1:p.Ala912=
  • LRG_673t1:c.2736G>A
  • LRG_673:g.22187G>A
  • NC_000017.10:g.78092541G>A
  • NM_000152.3:c.2736G>A
  • NM_000152.4(GAA):c.2736G>A
  • p.Ala912=
Links:
dbSNP: rs142472738
NCBI 1000 Genomes Browser:
rs142472738
Molecular consequence:
  • NM_000152.5:c.2736G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001079803.3:c.2736G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001079804.3:c.2736G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
4

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
SCV000524733GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(Jul 13, 2020) 		germlineclinical testing

Citation Link,

SCV000703073Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Uncertain significance
(Oct 31, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown4not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000524733.6

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

From Eurofins Ntd Llc (ga), SCV000703073.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided4not providednot providednot provided

Last Updated: Nov 3, 2024