rs55990065
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Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032447.5(FBN3):c.7088-438_7088-437insG variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000482 in 145,356 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: 𝑓 0.000048 ( 0 hom., cov: 24)
Consequence
FBN3
NM_032447.5 intron
NM_032447.5 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.759
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 Uncertain_significance. Variant got 2 ACMG points.
PM2
?
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FBN3 | NM_032447.5 | c.7088-438_7088-437insG | intron_variant | ENST00000600128.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FBN3 | ENST00000600128.6 | c.7088-438_7088-437insG | intron_variant | 1 | NM_032447.5 | ||||
FBN3 | ENST00000270509.6 | c.7088-438_7088-437insG | intron_variant | 1 | |||||
FBN3 | ENST00000601739.5 | c.7088-438_7088-437insG | intron_variant | 1 | |||||
FBN3 | ENST00000651877.1 | c.7214-438_7214-437insG | intron_variant | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000482 AC: 7AN: 145356Hom.: 0 Cov.: 24
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.0000482 AC: 7AN: 145356Hom.: 0 Cov.: 24 AF XY: 0.0000141 AC XY: 1AN XY: 70682
GnomAD4 genome
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ClinVar
Not reported inComputational scores
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at