13-21671795-T-TC

Variant summary

Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP6_ModerateBS2

The NM_002010.3(FGF9):​c.-118_-117insC variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00178 in 1,171,638 control chromosomes in the GnomAD database, including 5 homozygotes. Variant has been reported in ClinVar as Likely benign (★).

Frequency

Genomes: 𝑓 0.0044 ( 3 hom., cov: 33)
Exomes 𝑓: 0.0014 ( 2 hom. )

Consequence

FGF9
NM_002010.3 5_prime_UTR

Scores

Not classified

Clinical Significance

Likely benign criteria provided, single submitter B:1

Conservation

PhyloP100: 0.142
Variant links:
Genes affected
FGF9 (HGNC:3687): (fibroblast growth factor 9) The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein was isolated as a secreted factor that exhibits a growth-stimulating effect on cultured glial cells. In nervous system, this protein is produced mainly by neurons and may be important for glial cell development. Expression of the mouse homolog of this gene was found to be dependent on Sonic hedgehog (Shh) signaling. Mice lacking the homolog gene displayed a male-to-female sex reversal phenotype, which suggested a role in testicular embryogenesis. [provided by RefSeq, Jul 2008]

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Likely_benign. Variant got -6 ACMG points.

BP6
Variant 13-21671795-T-TC is Benign according to our data. Variant chr13-21671795-T-TC is described in ClinVar as [Likely_benign]. Clinvar id is 311417.Status of the report is criteria_provided_single_submitter, 1 stars.
BS2
High AC in GnomAd4 at 672 AD gene.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
FGF9NM_002010.3 linkuse as main transcriptc.-118_-117insC 5_prime_UTR_variant 1/3 ENST00000382353.6 NP_002001.1

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
FGF9ENST00000382353.6 linkuse as main transcriptc.-118_-117insC 5_prime_UTR_variant 1/31 NM_002010.3 ENSP00000371790 P1

Frequencies

GnomAD3 genomes
AF:
0.00439
AC:
666
AN:
151842
Hom.:
3
Cov.:
33
show subpopulations
Gnomad AFR
AF:
0.0104
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.00990
Gnomad ASJ
AF:
0.00317
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.00
Gnomad FIN
AF:
0.00
Gnomad MID
AF:
0.0190
Gnomad NFE
AF:
0.000824
Gnomad OTH
AF:
0.00671
GnomAD4 exome
AF:
0.00139
AC:
1416
AN:
1019678
Hom.:
2
Cov.:
13
AF XY:
0.00137
AC XY:
716
AN XY:
522130
show subpopulations
Gnomad4 AFR exome
AF:
0.00974
Gnomad4 AMR exome
AF:
0.00527
Gnomad4 ASJ exome
AF:
0.00278
Gnomad4 EAS exome
AF:
0.00
Gnomad4 SAS exome
AF:
0.000154
Gnomad4 FIN exome
AF:
0.0000991
Gnomad4 NFE exome
AF:
0.000968
Gnomad4 OTH exome
AF:
0.00334
GnomAD4 genome
AF:
0.00442
AC:
672
AN:
151960
Hom.:
3
Cov.:
33
AF XY:
0.00425
AC XY:
316
AN XY:
74282
show subpopulations
Gnomad4 AFR
AF:
0.0105
Gnomad4 AMR
AF:
0.00989
Gnomad4 ASJ
AF:
0.00317
Gnomad4 EAS
AF:
0.00
Gnomad4 SAS
AF:
0.00
Gnomad4 FIN
AF:
0.00
Gnomad4 NFE
AF:
0.000824
Gnomad4 OTH
AF:
0.00664
Alfa
AF:
0.00436
Hom.:
0

ClinVar

Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link

Submissions by phenotype

Symphalangism-brachydactyly syndrome Benign:1
Likely benign, criteria provided, single submitterclinical testingIllumina Laboratory Services, IlluminaJun 14, 2016- -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs1555223896; hg19: chr13-22245934; API