chr10-101770141-TAAAAAAA-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_033163.5(FGF8):c.*181_*187delTTTTTTT variant causes a 3 prime UTR change. The variant allele was found at a frequency of 0.000022 in 272,286 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: not found (cov: 0)
Exomes 𝑓: 0.000022 ( 0 hom. )
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: 4.86
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 Likely_benign. Variant got -4 ACMG points.
BS2
High AC in GnomAdExome4 at 6 AD,Digenic gene.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FGF8 | ENST00000320185 | c.*181_*187delTTTTTTT | 3_prime_UTR_variant | Exon 6 of 6 | 1 | NM_033163.5 | ENSP00000321797.2 | |||
FGF8 | ENST00000344255 | c.*181_*187delTTTTTTT | 3_prime_UTR_variant | Exon 6 of 6 | 1 | ENSP00000340039.3 | ||||
FGF8 | ENST00000469792.6 | n.*880_*886delTTTTTTT | splice_region_variant, non_coding_transcript_exon_variant | Exon 5 of 5 | 5 | ENSP00000473299.1 | ||||
FGF8 | ENST00000469792.6 | n.*880_*886delTTTTTTT | 3_prime_UTR_variant | Exon 5 of 5 | 5 | ENSP00000473299.1 |
Frequencies
GnomAD3 genomes Cov.: 0
GnomAD3 genomes
Cov.:
0
GnomAD4 exome AF: 0.0000220 AC: 6AN: 272286Hom.: 0 AF XY: 0.0000143 AC XY: 2AN XY: 139812
GnomAD4 exome
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6
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272286
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2
AN XY:
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GnomAD4 genome Cov.: 0
GnomAD4 genome
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0
ClinVar
Not reported inComputational scores
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at