NM_000642.3(AGL):c.1082+76_1082+78del AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: May 19, 2019
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:: RCV001546088.2

Allele description [Variation Report for NM_000642.3(AGL):c.1082+76_1082+78del]

NM_000642.3(AGL):c.1082+76_1082+78del

Gene:

AGL:amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1p21.2

Genomic location:

Preferred name:

NM_000642.3(AGL):c.1082+76_1082+78del

HGVS:

NC_000001.11:g.99874886_99874888del
NG_012865.1:g.29803_29805del
NM_000028.3:c.1082+76_1082+78del
NM_000642.3:c.1082+76_1082+78delMANE SELECT
NM_000643.3:c.1082+76_1082+78del
NM_000644.3:c.1082+76_1082+78del
NM_000646.3:c.1034+76_1034+78del
NM_001425325.1:c.1082+76_1082+78del
NM_001425326.1:c.1082+76_1082+78del
NM_001425327.1:c.1082+76_1082+78del
NM_001425328.1:c.878+76_878+78del
NM_001425329.1:c.878+76_878+78del
NM_001425332.1:c.704+76_704+78del
NC_000001.10:g.100340442_100340444del

Links:

dbSNP: rs113437474

NCBI 1000 Genomes Browser:

rs113437474

Molecular consequence:

NM_000028.3:c.1082+76_1082+78del - intron variant - [Sequence Ontology: SO:0001627]
NM_000642.3:c.1082+76_1082+78del - intron variant - [Sequence Ontology: SO:0001627]
NM_000643.3:c.1082+76_1082+78del - intron variant - [Sequence Ontology: SO:0001627]
NM_000644.3:c.1082+76_1082+78del - intron variant - [Sequence Ontology: SO:0001627]
NM_000646.3:c.1034+76_1034+78del - intron variant - [Sequence Ontology: SO:0001627]
NM_001425325.1:c.1082+76_1082+78del - intron variant - [Sequence Ontology: SO:0001627]
NM_001425326.1:c.1082+76_1082+78del - intron variant - [Sequence Ontology: SO:0001627]
NM_001425327.1:c.1082+76_1082+78del - intron variant - [Sequence Ontology: SO:0001627]
NM_001425328.1:c.878+76_878+78del - intron variant - [Sequence Ontology: SO:0001627]
NM_001425329.1:c.878+76_878+78del - intron variant - [Sequence Ontology: SO:0001627]
NM_001425332.1:c.704+76_704+78del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001765542	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (May 19, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001765542

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(May 19, 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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001765542.1

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

Last Updated: Sep 1, 2024

ClinVar

Relating variation to medicine