1-31369527-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_004102.5(FABP3):c.104G>A(p.Ser35Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S35T) has been classified as Uncertain significance.
Frequency
Consequence
NM_004102.5 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FABP3 | NM_004102.5 | c.104G>A | p.Ser35Asn | missense_variant | Exon 2 of 4 | ENST00000373713.7 | NP_004093.1 | |
FABP3 | NM_001320996.2 | c.137G>A | p.Ser46Asn | missense_variant | Exon 2 of 4 | NP_001307925.1 | ||
FABP3 | XM_011541007.4 | c.104G>A | p.Ser35Asn | missense_variant | Exon 2 of 4 | XP_011539309.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FABP3 | ENST00000373713.7 | c.104G>A | p.Ser35Asn | missense_variant | Exon 2 of 4 | 1 | NM_004102.5 | ENSP00000362817.2 | ||
FABP3 | ENST00000482018.1 | c.104G>A | p.Ser35Asn | missense_variant | Exon 4 of 6 | 5 | ENSP00000473982.1 | |||
FABP3 | ENST00000497275.5 | n.64G>A | non_coding_transcript_exon_variant | Exon 1 of 3 | 2 | |||||
FABP3 | ENST00000498148.5 | n.104G>A | non_coding_transcript_exon_variant | Exon 2 of 5 | 2 | ENSP00000474078.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251450Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135898
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at