5-128305169-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_ModerateBP6_ModerateBA1
The NM_001999.4(FBN2):c.5675-87T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.577 in 1,132,668 control chromosomes in the GnomAD database, including 196,703 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_001999.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FBN2 | ENST00000262464.9 | c.5675-87T>C | intron_variant | Intron 44 of 64 | 1 | NM_001999.4 | ENSP00000262464.4 | |||
FBN2 | ENST00000703783.1 | n.2459-87T>C | intron_variant | Intron 19 of 37 | ||||||
FBN2 | ENST00000703785.1 | n.2378-87T>C | intron_variant | Intron 18 of 26 |
Frequencies
GnomAD3 genomes AF: 0.502 AC: 76318AN: 151976Hom.: 22225 Cov.: 33
GnomAD4 exome AF: 0.588 AC: 576900AN: 980574Hom.: 174468 AF XY: 0.593 AC XY: 297342AN XY: 501322
GnomAD4 genome AF: 0.502 AC: 76341AN: 152094Hom.: 22235 Cov.: 33 AF XY: 0.513 AC XY: 38115AN XY: 74328
ClinVar
Submissions by phenotype
not provided Benign:1
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at