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NM_000152.5(GAA):c.1537G>A (p.Asp513Asn) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 8, 2020
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:
RCV001507902.5

Allele description [Variation Report for NM_000152.5(GAA):c.1537G>A (p.Asp513Asn)]

NM_000152.5(GAA):c.1537G>A (p.Asp513Asn)

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.1537G>A (p.Asp513Asn)
Other names:
NM_000152.5(GAA):c.1537G>A
HGVS:
  • NC_000017.11:g.80110826G>A
  • NG_009822.1:g.14271G>A
  • NM_000152.5:c.1537G>AMANE SELECT
  • NM_001079803.3:c.1537G>A
  • NM_001079804.3:c.1537G>A
  • NP_000143.2:p.Asp513Asn
  • NP_001073271.1:p.Asp513Asn
  • NP_001073272.1:p.Asp513Asn
  • LRG_673t1:c.1537G>A
  • LRG_673:g.14271G>A
  • NC_000017.10:g.78084625G>A
  • NM_000152.3:c.1537G>A
  • NM_000152.4:c.1537G>A
  • p.Asp513Asn
Protein change:
D513N
Links:
dbSNP: rs748047271
NCBI 1000 Genomes Browser:
rs748047271
Molecular consequence:
  • NM_000152.5:c.1537G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079803.3:c.1537G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079804.3:c.1537G>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
SCV001713738Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 8, 2020) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.

Ngiwsara L, Wattanasirichaigoon D, Tim-Aroon T, Rojnueangnit K, Noojaroen S, Khongkraparn A, Sawangareetrakul P, Ketudat-Cairns JR, Charoenwattanasatien R, Champattanachai V, Kuptanon C, Pangkanon S, Svasti J.

BMC Med Genet. 2019 Sep 11;20(1):156. doi: 10.1186/s12881-019-0878-8.

PubMed [citation]
PMID:
31510962
PMCID:
PMC6737665

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, SCV001713738.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

PM2, PM5, PS3, PP3

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024