NM_004114.5(FGF13):c.5C>G (p.Ala2Gly) AND Developmental and epileptic encephalopathy, 90

Germline classification:: Likely pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV002508182.1

Allele description [Variation Report for NM_004114.5(FGF13):c.5C>G (p.Ala2Gly)]

NM_004114.5(FGF13):c.5C>G (p.Ala2Gly)

Gene:

FGF13:fibroblast growth factor 13 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq26.3

Genomic location:

Preferred name:

NM_004114.5(FGF13):c.5C>G (p.Ala2Gly)

HGVS:

NC_000023.11:g.138710999G>C
NM_001139498.2:c.50-2071C>G
NM_001139500.2:c.218-2071C>G
NM_001139501.2:c.131-2071C>G
NM_001139502.2:c.131-2071C>G
NM_004114.5:c.5C>GMANE SELECT
NM_033642.3:c.29-2071C>G
NP_004105.1:p.Ala2Gly
NC_000023.10:g.137793161G>C

Protein change:

A2G

Molecular consequence:

NM_001139498.2:c.50-2071C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001139500.2:c.218-2071C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001139501.2:c.131-2071C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001139502.2:c.131-2071C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_033642.3:c.29-2071C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_004114.5:c.5C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Developmental and epileptic encephalopathy, 90
Identifiers:: MONDO: MONDO:0025353; MedGen: C5542345; OMIM: 301058

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002817374	Dept of Pediatric nervous, The Second Affiliated Hospital Zhejiang University School of Medicine	no assertion criteria provided	Likely pathogenic	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002817374

Dept of Pediatric nervous, The Second Affiliated Hospital Zhejiang University School of Medicine

no assertion criteria provided

Likely pathogenic

de novo

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Dept of Pediatric nervous, The Second Affiliated Hospital Zhejiang University School of Medicine, SCV002817374.1

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

Last Updated: Jan 7, 2023

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