rs431905491
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001444.3(FABP5):āc.371A>Gā(p.Asn124Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000256 in 1,603,708 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as not provided (no stars).
Frequency
Consequence
NM_001444.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FABP5 | NM_001444.3 | c.371A>G | p.Asn124Ser | missense_variant | 4/4 | ENST00000297258.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FABP5 | ENST00000297258.11 | c.371A>G | p.Asn124Ser | missense_variant | 4/4 | 1 | NM_001444.3 | P1 | |
FABP5 | ENST00000396359.1 | c.269A>G | p.Asn90Ser | missense_variant | 4/4 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000723 AC: 11AN: 152168Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000802 AC: 20AN: 249512Hom.: 0 AF XY: 0.0000741 AC XY: 10AN XY: 134994
GnomAD4 exome AF: 0.0000207 AC: 30AN: 1451422Hom.: 0 Cov.: 26 AF XY: 0.0000235 AC XY: 17AN XY: 722686
GnomAD4 genome ? AF: 0.0000722 AC: 11AN: 152286Hom.: 0 Cov.: 32 AF XY: 0.0000940 AC XY: 7AN XY: 74458
ClinVar
Submissions by phenotype
not provided Other:1
not provided, no classification provided | literature only | Laboratory for Molecular Psychiatry, RIKEN | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at