NM_004114.5(FGF13):c.146dup (p.Lys50fs) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 19, 2024
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:: RCV004781333.1

Allele description [Variation Report for NM_004114.5(FGF13):c.146dup (p.Lys50fs)]

NM_004114.5(FGF13):c.146dup (p.Lys50fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

Xq26.3

Genomic location:

Preferred name:

NM_004114.5(FGF13):c.146dup (p.Lys50fs)

HGVS:

NC_000023.11:g.138710858dup
NM_001139498.2:c.50-1930dup
NM_001139500.2:c.218-1930dup
NM_001139501.2:c.131-1930dup
NM_001139502.2:c.131-1930dup
NM_004114.5:c.146dupMANE SELECT
NM_033642.3:c.29-1930dup
NP_004105.1:p.Lys50fs
NC_000023.10:g.137793020dup
NM_004114.3:c.146dup

Protein change:

K50fs

Molecular consequence:

NM_004114.5:c.146dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001139498.2:c.50-1930dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001139500.2:c.218-1930dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001139501.2:c.131-1930dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001139502.2:c.131-1930dup - intron variant - [Sequence Ontology: SO:0001627]
NM_033642.3:c.29-1930dup - 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
SCV005388609	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Apr 19, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005388609

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Apr 19, 2024)

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, SCV005388609.1

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge

#	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: Nov 10, 2024

ClinVar

Relating variation to medicine