NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs) AND not provided

Germline classification:: Pathogenic/Likely pathogenic (3 submissions)
Last evaluated:: May 19, 2022
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:: RCV000725968.10

Allele description [Variation Report for NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs)]

NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs)

Gene:

GAA:alpha glucosidase [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

17q25.3

Genomic location:

Preferred name:

NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs)

HGVS:

NC_000017.11:g.80107630_80107649delinsC
NG_009822.1:g.11075_11094delinsC
NM_000152.5:c.766_785delinsCMANE SELECT
NM_001079803.3:c.766_785delinsC
NM_001079804.3:c.766_785delinsC
NP_000143.2:p.Tyr256fs
NP_001073271.1:p.Tyr256fs
NP_001073272.1:p.Tyr256fs
LRG_673t1:c.766_785delinsC
LRG_673:g.11075_11094delinsC
NC_000017.10:g.78081429_78081448delinsC
NM_000152.4:c.766_785delinsC
NM_000152.5(GAA):c.766_785delinsCMANE SELECT
p.Tyr256fs

Protein change:

Y256fs

Links:

dbSNP: rs786204532

NCBI 1000 Genomes Browser:

rs786204532

Molecular consequence:

NM_000152.5:c.766_785delinsC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001079803.3:c.766_785delinsC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001079804.3:c.766_785delinsC - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000340911	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Mar 25, 2016)	germline	clinical testing	Citation Link,
SCV002021189	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 19, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002503172	AiLife Diagnostics, AiLife Diagnostics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Feb 11, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 10206684, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000340911

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Mar 25, 2016)

germline

clinical testing

Citation Link,

SCV002021189

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 19, 2022)

germline

clinical testing

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

SCV002503172

AiLife Diagnostics, AiLife Diagnostics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Feb 11, 2022)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	3	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

The identification of five novel mutations in the lysosomal acid a-(1-4) glucosidase gene from patients with glycogen storage disease type II. Mutations in brief no. 134. Online.

Beesley CE, Child AH, Yacoub MH.

Hum Mutat. 1998;11(5):413.

PubMed [citation]

PMID:: 10206684

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 Eurofins Ntd Llc (ga), SCV000340911.4

#	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 Revvity Omics, Revvity, SCV002021189.3

#	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

From AiLife Diagnostics, AiLife Diagnostics, SCV002503172.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	PubMed (2)

#	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		3	not provided	not provided	not provided

Last Updated: Mar 16, 2024

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