NM_000152.5(GAA):c.1501_1515del (p.Asp501_Glu505del) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 9, 2016
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:
RCV000481438.1

Allele description [Variation Report for NM_000152.5(GAA):c.1501_1515del (p.Asp501_Glu505del)]

NM_000152.5(GAA):c.1501_1515del (p.Asp501_Glu505del)

Gene:
GAA:alpha glucosidase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_000152.5(GAA):c.1501_1515del (p.Asp501_Glu505del)
HGVS:
  • NC_000017.11:g.80110790_80110804del
  • NG_009822.1:g.14235_14249del
  • NM_000152.5:c.1501_1515delMANE SELECT
  • NM_001079803.3:c.1501_1515del
  • NM_001079804.3:c.1501_1515del
  • NP_000143.2:p.Asp501_Glu505del
  • NP_001073271.1:p.Asp501_Glu505del
  • NP_001073272.1:p.Asp501_Glu505del
  • LRG_673t1:c.1501_1515del
  • LRG_673:g.14235_14249del
  • NC_000017.10:g.78084589_78084603del
  • NM_000152.3:c.1501_1515delGACATGGTGGCTGAG
Links:
dbSNP: rs1064794524
NCBI 1000 Genomes Browser:
rs1064794524
Molecular consequence:
  • NM_000152.5:c.1501_1515del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001079803.3:c.1501_1515del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001079804.3:c.1501_1515del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000569366GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Feb 9, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000569366.4

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

Description

The c.1501_1515del15 variant in the GAA gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The c.1501_1515del15 variant was not observed at any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.1501_1515del15 variant is an in-frame deletion that results in the loss of a five amino acid residues, denoted p.Asp501_Glu505del. All deleted residues, except Alanine 504, are conserved in mammals. Therefore, we interpret c.1501_1515del15 as a likely pathogenic variant.

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

Last Updated: Nov 5, 2022