NM_000152.5(GAA):c.861C>T (p.Pro287=) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 15, 2019
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000274967.8

Allele description [Variation Report for NM_000152.5(GAA):c.861C>T (p.Pro287=)]

NM_000152.5(GAA):c.861C>T (p.Pro287=)

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.861C>T (p.Pro287=)

HGVS:

NC_000017.11:g.80107802C>T
NG_009822.1:g.11247C>T
NM_000152.4(GAA):c.861C>T
NM_000152.5:c.861C>TMANE SELECT
NM_001079803.3:c.861C>T
NM_001079804.3:c.861C>T
NP_000143.2:p.Pro287=
NP_001073271.1:p.Pro287=
NP_001073272.1:p.Pro287=
LRG_673t1:c.861C>T
LRG_673:g.11247C>T
NC_000017.10:g.78081601C>T
NM_000152.3:c.861C>T
NM_000152.4(GAA):c.861C>T
NM_000152.4:c.861C>T
p.Pro287=

Links:

dbSNP: rs778580823

NCBI 1000 Genomes Browser:

rs778580823

Molecular consequence:

NM_000152.5:c.861C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001079803.3:c.861C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001079804.3:c.861C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000337525	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Dec 8, 2015)	germline	clinical testing	Citation Link,
SCV001772385	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Apr 15, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000337525

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Dec 8, 2015)

germline

clinical testing

Citation Link,

SCV001772385

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Apr 15, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000337525.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		2	not provided	not provided	not provided

From GeneDx, SCV001772385.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID 284775; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 27189384, 22644586, 23000108)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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