U.S. flag

An official website of the United States government

NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 10, 2017
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:
RCV000479891.2

Allele description [Variation Report for NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter)]

NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter)

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.1062C>A (p.Tyr354Ter)
HGVS:
  • NC_000017.11:g.80108396C>A
  • NG_009822.1:g.11841C>A
  • NM_000152.5:c.1062C>AMANE SELECT
  • NM_001079803.3:c.1062C>A
  • NM_001079804.3:c.1062C>A
  • NP_000143.2:p.Tyr354Ter
  • NP_001073271.1:p.Tyr354Ter
  • NP_001073272.1:p.Tyr354Ter
  • LRG_673t1:c.1062C>A
  • LRG_673:g.11841C>A
  • NC_000017.10:g.78082195C>A
  • NC_000017.10:g.78082195C>A
  • NM_000152.3:c.1062C>A
  • NM_000152.5(GAA):c.1062C>AMANE SELECT
  • p.Tyr354Ter
Protein change:
Y354*
Links:
dbSNP: rs1064796703
NCBI 1000 Genomes Browser:
rs1064796703
Molecular consequence:
  • NM_000152.5:c.1062C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001079803.3:c.1062C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001079804.3:c.1062C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000573688GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Mar 10, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000573688.4

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

Description

The Y354X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The Y354X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The Y354X variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although Y354X has not been previously reported to our knowledge, other downstream nonsense variants in the GAA gene have been reported in the Human Gene Mutation Database in association with GSDII (Stenson et al., 2014). Therefore, we interpret Y354X as a pathogenic variant.

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

Last Updated: Sep 29, 2024