NM_000152.5(GAA):c.2431dup (p.Leu811fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 3, 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:: RCV001783325.4

Allele description [Variation Report for NM_000152.5(GAA):c.2431dup (p.Leu811fs)]

NM_000152.5(GAA):c.2431dup (p.Leu811fs)

Gene:

GAA:alpha glucosidase [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

17q25.3

Genomic location:

Preferred name:

NM_000152.5(GAA):c.2431dup (p.Leu811fs)

HGVS:

NC_000017.11:g.80117699dup
NG_009822.1:g.21144dup
NM_000152.5:c.2431dupMANE SELECT
NM_001079803.3:c.2431dup
NM_001079804.3:c.2431dup
NP_000143.2:p.Leu811fs
NP_001073271.1:p.Leu811fs
NP_001073272.1:p.Leu811fs
LRG_673:g.21144dup
NC_000017.10:g.78091492_78091493insC
NC_000017.10:g.78091498dup

Protein change:

L811fs

Links:

dbSNP: rs2143925402

NCBI 1000 Genomes Browser:

rs2143925402

Molecular consequence:

NM_000152.5:c.2431dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001079803.3:c.2431dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001079804.3:c.2431dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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105243045[uid] AND (alive[prop]) (1)
Gene
Gm15774 predicted gene 15774 [Mus musculus]
Gm15774 predicted gene 15774 [Mus musculus]
Gene ID:105243045

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002023801	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 3, 2022)	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

SCV002023801

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 3, 2022)

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, SCV002023801.3

#	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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