NM_005247.4(FGF3):c.45del (p.Trp16fs) AND FGF3-related disorder

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 12, 2024
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:: RCV004754962.1

Allele description [Variation Report for NM_005247.4(FGF3):c.45del (p.Trp16fs)]

NM_005247.4(FGF3):c.45del (p.Trp16fs)

Genes:

LOC109115964:FGF3 5' regulatory region [Gene]
FGF3:fibroblast growth factor 3 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11q13.3

Genomic location:

Preferred name:

NM_005247.4(FGF3):c.45del (p.Trp16fs)

Other names:

p.Trp16Glyfs*63

HGVS:

NC_000011.10:g.69818889del
NG_009016.1:g.5536del
NG_052068.1:g.1450del
NM_005247.4:c.45delMANE SELECT
NP_005238.1:p.Trp16fs
LRG_1303t1:c.45del
LRG_1303:g.5536del
LRG_1303p1:p.Trp16fs
NC_000011.9:g.69633657del
NM_005247.2:c.45del
NM_005247.2:c.45delC

Protein change:

W16fs

Molecular consequence:

NM_005247.4:c.45del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: FGF3-related disorder
Synonyms:: FGF3-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005364752	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Likely pathogenic (Apr 12, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005364752

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Likely pathogenic
(Apr 12, 2024)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005364752.1

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

Description

The FGF3 c.45delC variant is predicted to result in a frameshift and premature protein termination (p.Gly15Glyfs*64). This variant has not been reported in the literature. This variant is reported in 0.0069% of alleles in individuals of Latino descent in gnomAD. Frameshift variants in FGF3 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

#	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

Last Updated: Oct 13, 2024

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