chr19-8066119-C-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_032447.5(FBN3):c.8230G>A(p.Gly2744Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00061 in 1,613,538 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_032447.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FBN3 | ENST00000600128.6 | c.8230G>A | p.Gly2744Arg | missense_variant | Exon 64 of 64 | 1 | NM_032447.5 | ENSP00000470498.1 | ||
FBN3 | ENST00000270509.6 | c.8230G>A | p.Gly2744Arg | missense_variant | Exon 63 of 63 | 1 | ENSP00000270509.2 | |||
FBN3 | ENST00000601739.5 | c.8230G>A | p.Gly2744Arg | missense_variant | Exon 64 of 64 | 1 | ENSP00000472324.1 | |||
FBN3 | ENST00000651877.1 | c.8356G>A | p.Gly2786Arg | missense_variant | Exon 64 of 64 | ENSP00000498507.1 |
Frequencies
GnomAD3 genomes AF: 0.00250 AC: 380AN: 152242Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00101 AC: 252AN: 249580Hom.: 0 AF XY: 0.000977 AC XY: 132AN XY: 135172
GnomAD4 exome AF: 0.000413 AC: 604AN: 1461178Hom.: 2 Cov.: 31 AF XY: 0.000470 AC XY: 342AN XY: 726900
GnomAD4 genome AF: 0.00249 AC: 380AN: 152360Hom.: 0 Cov.: 33 AF XY: 0.00254 AC XY: 189AN XY: 74510
ClinVar
Submissions by phenotype
FBN3-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at