NM_002863.5(PYGL):c.188_189insGA (p.His63fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 1, 2020
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:: RCV001090534.24

Allele description [Variation Report for NM_002863.5(PYGL):c.188_189insGA (p.His63fs)]

NM_002863.5(PYGL):c.188_189insGA (p.His63fs)

Gene:

PYGL:glycogen phosphorylase L [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

14q22.1

Genomic location:

Preferred name:

NM_002863.5(PYGL):c.188_189insGA (p.His63fs)

HGVS:

NC_000014.9:g.50944216_50944217insCT
NG_012796.1:g.5315_5316insGA
NM_001163940.2:c.188_189insGA
NM_002863.5:c.188_189insGAMANE SELECT
NP_001157412.1:p.His63fs
NP_002854.3:p.His63fs
NC_000014.8:g.51410934_51410935insCT

Protein change:

H63fs

Links:

dbSNP: rs2050729007

NCBI 1000 Genomes Browser:

rs2050729007

Molecular consequence:

NM_001163940.2:c.188_189insGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_002863.5:c.188_189insGA - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Mus musculus solute carrier family 37 (glycerol-3-phosphate transporter), member...
Mus musculus solute carrier family 37 (glycerol-3-phosphate transporter), member 3 (Slc37a3), transcript variant 4, mRNA
gi|1371981417|ref|NM_001361619.1|

Nucleotide
Homo sapiens matrix metalloproteinase 24 (membrane-inserted) (MMP24), mRNA
Homo sapiens matrix metalloproteinase 24 (membrane-inserted) (MMP24), mRNA
gi|5729928|ref|NM_006690.1|

Nucleotide
ClinVar for MedGen (Select 833238) (1)
ClinVar

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
SCV001246139	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely pathogenic (Jul 1, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001246139

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely pathogenic
(Jul 1, 2020)

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	3	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001246139.26

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	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		3	not provided	not provided	not provided

Last Updated: Oct 20, 2024

ClinVar

Relating variation to medicine