rs17202517
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_032447.5(FBN3):c.7088-45C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.213 in 1,603,190 control chromosomes in the GnomAD database, including 39,622 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 0.17 ( 2771 hom., cov: 32)
Exomes 𝑓: 0.22 ( 36851 hom. )
Consequence
FBN3
NM_032447.5 intron
NM_032447.5 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.0780
Genes affected
FBN3 (HGNC:18794): (fibrillin 3) This gene encodes a memebr of the fibrillin protein family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. [provided by RefSeq, Mar 2016]
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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 (NFE) allele frequency at 95% confidence interval = 0.237 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FBN3 | NM_032447.5 | c.7088-45C>T | intron_variant | ENST00000600128.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FBN3 | ENST00000600128.6 | c.7088-45C>T | intron_variant | 1 | NM_032447.5 | ||||
FBN3 | ENST00000270509.6 | c.7088-45C>T | intron_variant | 1 | |||||
FBN3 | ENST00000601739.5 | c.7088-45C>T | intron_variant | 1 | |||||
FBN3 | ENST00000651877.1 | c.7214-45C>T | intron_variant | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.170 AC: 25802AN: 152024Hom.: 2768 Cov.: 32
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GnomAD3 exomes AF: 0.188 AC: 46367AN: 247026Hom.: 5015 AF XY: 0.192 AC XY: 25639AN XY: 133702
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GnomAD4 exome AF: 0.218 AC: 315838AN: 1451048Hom.: 36851 Cov.: 32 AF XY: 0.217 AC XY: 156446AN XY: 721958
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GnomAD4 genome ? AF: 0.170 AC: 25805AN: 152142Hom.: 2771 Cov.: 32 AF XY: 0.170 AC XY: 12665AN XY: 74366
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ClinVar
Not reported inComputational scores
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Name
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at