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NM_000152.5(GAA):c.2739C>G (p.Pro913=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 27, 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:
RCV002433767.2

Allele description [Variation Report for NM_000152.5(GAA):c.2739C>G (p.Pro913=)]

NM_000152.5(GAA):c.2739C>G (p.Pro913=)

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.2739C>G (p.Pro913=)
HGVS:
  • NC_000017.11:g.80118745C>G
  • NG_009822.1:g.22190C>G
  • NM_000152.5:c.2739C>GMANE SELECT
  • NM_001079803.3:c.2739C>G
  • NM_001079804.3:c.2739C>G
  • NP_000143.2:p.Pro913=
  • NP_001073271.1:p.Pro913=
  • NP_001073272.1:p.Pro913=
  • LRG_673t1:c.2739C>G
  • LRG_673:g.22190C>G
  • NC_000017.10:g.78092544C>G
  • NM_000152.3:c.2739C>G
  • NM_000152.4(GAA):c.2739C>G
  • p.Pro913=
Links:
dbSNP: rs370765733
NCBI 1000 Genomes Browser:
rs370765733
Molecular consequence:
  • NM_000152.5:c.2739C>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001079803.3:c.2739C>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001079804.3:c.2739C>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002749377Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jun 27, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002749377.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024