rs741143
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 1P and 12B. PP2BP4_StrongBA1
The NM_003890.3(FCGBP):c.11486C>T(p.Ala3829Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.209 in 1,365,360 control chromosomes in the GnomAD database, including 31,984 homozygotes. In-silico tool predicts a benign outcome for this variant. 5/6 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_003890.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FCGBP | NM_003890.3 | c.11486C>T | p.Ala3829Val | missense_variant | 32/36 | ENST00000628705.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FCGBP | ENST00000616721.6 | c.11447C>T | p.Ala3816Val | missense_variant | 24/28 | 1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.211 AC: 32016AN: 152010Hom.: 3758 Cov.: 33
GnomAD3 exomes AF: 0.235 AC: 56626AN: 241416Hom.: 7657 AF XY: 0.238 AC XY: 31313AN XY: 131680
GnomAD4 exome AF: 0.209 AC: 253925AN: 1213232Hom.: 28226 Cov.: 33 AF XY: 0.213 AC XY: 128085AN XY: 601236
GnomAD4 genome ? AF: 0.211 AC: 32030AN: 152128Hom.: 3758 Cov.: 33 AF XY: 0.212 AC XY: 15735AN XY: 74372
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at