19-8112061-T-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_032447.5(FBN3):āc.3877A>Gā(p.Ser1293Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.21 in 1,611,874 control chromosomes in the GnomAD database, including 38,890 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S1293N) has been classified as Likely benign.
Frequency
Consequence
NM_032447.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FBN3 | NM_032447.5 | c.3877A>G | p.Ser1293Gly | missense_variant | 31/64 | ENST00000600128.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FBN3 | ENST00000600128.6 | c.3877A>G | p.Ser1293Gly | missense_variant | 31/64 | 1 | NM_032447.5 | ||
FBN3 | ENST00000270509.6 | c.3877A>G | p.Ser1293Gly | missense_variant | 30/63 | 1 | |||
FBN3 | ENST00000601739.5 | c.3877A>G | p.Ser1293Gly | missense_variant | 31/64 | 1 | |||
FBN3 | ENST00000651877.1 | c.4003A>G | p.Ser1335Gly | missense_variant | 31/64 | P1 |
Frequencies
GnomAD3 genomes AF: 0.236 AC: 35633AN: 151130Hom.: 4602 Cov.: 28
GnomAD3 exomes AF: 0.253 AC: 63554AN: 251100Hom.: 9093 AF XY: 0.251 AC XY: 34022AN XY: 135710
GnomAD4 exome AF: 0.207 AC: 302441AN: 1460626Hom.: 34273 Cov.: 34 AF XY: 0.210 AC XY: 152784AN XY: 726656
GnomAD4 genome AF: 0.236 AC: 35663AN: 151248Hom.: 4617 Cov.: 28 AF XY: 0.245 AC XY: 18087AN XY: 73870
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at