10-101770141-TAAAAAAAAAAAAAAA-TAAAAAAAAAAAAAAAAAAAAA
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_033163.5(FGF8):c.*182_*187dupTTTTTT variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0 ( 0 hom., cov: 0)
Exomes 𝑓: 0.0000073 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
FGF8
NM_033163.5 3_prime_UTR
NM_033163.5 3_prime_UTR
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.108
Genes affected
FGF8 (HGNC:3686): (fibroblast growth factor 8) 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 is known to be a factor that supports androgen and anchorage independent growth of mammary tumor cells. Overexpression of this gene has been shown to increase tumor growth and angiogensis. The adult expression of this gene is restricted to testes and ovaries. Temporal and spatial pattern of this gene expression suggests its function as an embryonic epithelial factor. Studies of the mouse and chick homologs revealed roles in midbrain and limb development, organogenesis, embryo gastrulation and left-right axis determination. The alternative splicing of this gene results in four transcript variants. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FGF8 | ENST00000320185 | c.*182_*187dupTTTTTT | 3_prime_UTR_variant | Exon 6 of 6 | 1 | NM_033163.5 | ENSP00000321797.2 | |||
FGF8 | ENST00000344255 | c.*182_*187dupTTTTTT | 3_prime_UTR_variant | Exon 6 of 6 | 1 | ENSP00000340039.3 | ||||
FGF8 | ENST00000469792.6 | n.*881_*886dupTTTTTT | splice_region_variant, non_coding_transcript_exon_variant | Exon 5 of 5 | 5 | ENSP00000473299.1 | ||||
FGF8 | ENST00000469792.6 | n.*881_*886dupTTTTTT | 3_prime_UTR_variant | Exon 5 of 5 | 5 | ENSP00000473299.1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 120778Hom.: 0 Cov.: 0 FAILED QC
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GnomAD4 exome AF: 0.00000735 AC: 2AN: 272282Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 139812
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GnomAD4 genome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 120778Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 57200
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ClinVar
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Find out detailed SpliceAI scores and Pangolin per-transcript scores at