17-17212475-TAAAAAAAAAAAAAAA-TAAA
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_144997.7(FLCN):c.*1168_*1179delTTTTTTTTTTTT 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 0.000013 ( 0 hom., cov: 19)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
FLCN
NM_144997.7 3_prime_UTR
NM_144997.7 3_prime_UTR
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.714
Genes affected
FLCN (HGNC:27310): (folliculin) This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
MPRIP (HGNC:30321): (myosin phosphatase Rho interacting protein) Enables cadherin binding activity. Predicted to be involved in actin filament organization. Located in actin cytoskeleton and cytosol. [provided by Alliance of Genome Resources, Apr 2022]
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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 |
---|---|---|---|---|---|---|---|---|---|---|
FLCN | ENST00000285071 | c.*1168_*1179delTTTTTTTTTTTT | 3_prime_UTR_variant | Exon 14 of 14 | 1 | NM_144997.7 | ENSP00000285071.4 | |||
ENSG00000264187 | ENST00000427497.3 | n.*372+2498_*372+2509delTTTTTTTTTTTT | intron_variant | Intron 9 of 11 | 1 | ENSP00000394249.3 | ||||
MPRIP | ENST00000578209.5 | c.*18-5000_*18-4989delAAAAAAAAAAAA | intron_variant | Intron 5 of 5 | 3 | ENSP00000464276.1 |
Frequencies
GnomAD3 genomes AF: 0.0000133 AC: 1AN: 74948Hom.: 0 Cov.: 19
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GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1068Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 536
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GnomAD4 genome AF: 0.0000133 AC: 1AN: 74948Hom.: 0 Cov.: 19 AF XY: 0.0000291 AC XY: 1AN XY: 34322
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Not reported inComputational scores
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Find out detailed SpliceAI scores and Pangolin per-transcript scores at