NM_000152.5(GAA):c.2495_2496del (p.Thr832fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 6, 2021
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:: RCV001782870.4

Allele description [Variation Report for NM_000152.5(GAA):c.2495_2496del (p.Thr832fs)]

NM_000152.5(GAA):c.2495_2496del (p.Thr832fs)

Gene:

GAA:alpha glucosidase [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

17q25.3

Genomic location:

Preferred name:

NM_000152.5(GAA):c.2495_2496del (p.Thr832fs)

HGVS:

NC_000017.11:g.80118204CA[1]
NG_009822.1:g.21649CA[1]
NM_000152.5:c.2495_2496delMANE SELECT
NM_001079803.3:c.2495_2496del
NM_001079804.3:c.2495_2496del
NP_000143.2:p.Thr832fs
NP_001073271.1:p.Thr832fs
NP_001073272.1:p.Thr832fs
LRG_673t1:c.2495_2496del
LRG_673:g.21649CA[1]
NC_000017.10:g.78092003CA[1]
NC_000017.10:g.78092003_78092004del
NM_000152.3:c.2495_2496delCA

Protein change:

T832fs

Links:

dbSNP: rs1057516704

NCBI 1000 Genomes Browser:

rs1057516704

Molecular consequence:

NM_000152.5:c.2495_2496del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001079803.3:c.2495_2496del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001079804.3:c.2495_2496del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV002023828	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 6, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002023828

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Aug 6, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

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 Revvity Omics, Revvity, SCV002023828.3

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

#	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		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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