rs4772445
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000376131.9(FGF14):c.208+250190C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.188 in 152,026 control chromosomes in the GnomAD database, including 2,817 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.19 ( 2817 hom., cov: 32)
Consequence
FGF14
ENST00000376131.9 intron
ENST00000376131.9 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.456
Genes affected
FGF14 (HGNC:3671): (fibroblast growth factor 14) 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. A mutation in this gene is associated with autosomal dominant cerebral ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.9).
BA1
?
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.337 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FGF14 | NM_001321931.1 | c.-60+41842C>T | intron_variant | ||||
FGF14 | NM_001321932.1 | c.4+41756C>T | intron_variant | ||||
FGF14 | NM_001321933.1 | c.13+69416C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FGF14 | ENST00000376131.9 | c.208+250190C>T | intron_variant | 1 | |||||
FGF14 | ENST00000418923.3 | c.91+250190C>T | intron_variant | 3 | A1 | ||||
FGF14 | ENST00000706494.1 | c.-60+215164C>T | intron_variant |
Frequencies
GnomAD3 genomes ? AF: 0.188 AC: 28572AN: 151908Hom.: 2815 Cov.: 32
GnomAD3 genomes
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32
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.188 AC: 28604AN: 152026Hom.: 2817 Cov.: 32 AF XY: 0.194 AC XY: 14427AN XY: 74304
GnomAD4 genome
?
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32
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14427
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1000
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3478
ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at