rs12974280
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_032447.5(FBN3):c.1920C>T(p.Ser640=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000274 in 1,461,804 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. S640S) has been classified as Benign.
Frequency
Consequence
NM_032447.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FBN3 | NM_032447.5 | c.1920C>T | p.Ser640= | synonymous_variant | 15/64 | ENST00000600128.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FBN3 | ENST00000600128.6 | c.1920C>T | p.Ser640= | synonymous_variant | 15/64 | 1 | NM_032447.5 | ||
FBN3 | ENST00000270509.6 | c.1920C>T | p.Ser640= | synonymous_variant | 14/63 | 1 | |||
FBN3 | ENST00000601739.5 | c.1920C>T | p.Ser640= | synonymous_variant | 15/64 | 1 | |||
FBN3 | ENST00000651877.1 | c.2046C>T | p.Ser682= | synonymous_variant | 15/64 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461804Hom.: 0 Cov.: 62 AF XY: 0.00000138 AC XY: 1AN XY: 727194
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at