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NM_000152.5(GAA):c.2064C>T (p.Ser688=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 15, 2023
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:
RCV003372681.2

Allele description [Variation Report for NM_000152.5(GAA):c.2064C>T (p.Ser688=)]

NM_000152.5(GAA):c.2064C>T (p.Ser688=)

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.2064C>T (p.Ser688=)
HGVS:
  • NC_000017.11:g.80113241C>T
  • NG_009822.1:g.16686C>T
  • NM_000152.5:c.2064C>TMANE SELECT
  • NM_001079803.3:c.2064C>T
  • NM_001079804.3:c.2064C>T
  • NP_000143.2:p.Ser688=
  • NP_001073271.1:p.Ser688=
  • NP_001073272.1:p.Ser688=
  • LRG_673t1:c.2064C>T
  • LRG_673:g.16686C>T
  • NC_000017.10:g.78087040C>T
  • NM_000152.3:c.2064C>T
  • NM_000152.4(GAA):c.2064C>T
  • p.Ser688=
Links:
dbSNP: rs140996643
NCBI 1000 Genomes Browser:
rs140996643
Molecular consequence:
  • NM_000152.5:c.2064C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001079803.3:c.2064C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001079804.3:c.2064C>T - 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
SCV004096230Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jul 15, 2023) 		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, SCV004096230.2

#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