1-32868336-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_153756.3(FNDC5):c.263G>A(p.Arg88His) variant causes a missense change. The variant allele was found at a frequency of 0.0000242 in 1,614,070 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R88C) has been classified as Uncertain significance.
Frequency
Consequence
NM_153756.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FNDC5 | NM_153756.3 | c.263G>A | p.Arg88His | missense_variant | Exon 3 of 6 | ENST00000373471.9 | NP_715637.2 | |
FNDC5 | NM_001171940.2 | c.263G>A | p.Arg88His | missense_variant | Exon 3 of 6 | NP_001165411.2 | ||
FNDC5 | NM_001171941.3 | c.38G>A | p.Arg13His | missense_variant | Exon 3 of 5 | NP_001165412.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FNDC5 | ENST00000373471.9 | c.263G>A | p.Arg88His | missense_variant | Exon 3 of 6 | 2 | NM_153756.3 | ENSP00000362570.5 | ||
FNDC5 | ENST00000496770.1 | c.38G>A | p.Arg13His | missense_variant | Exon 3 of 5 | 1 | ENSP00000476320.1 | |||
FNDC5 | ENST00000710568.1 | c.407G>A | p.Arg136His | missense_variant | Exon 3 of 6 | ENSP00000518350.1 | ||||
FNDC5 | ENST00000649537.2 | c.230G>A | p.Arg77His | missense_variant | Exon 3 of 6 | ENSP00000497837.2 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152206Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251292Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135842
GnomAD4 exome AF: 0.0000246 AC: 36AN: 1461864Hom.: 0 Cov.: 32 AF XY: 0.0000234 AC XY: 17AN XY: 727238
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152206Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74358
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.38G>A (p.R13H) alteration is located in exon 3 (coding exon 1) of the FNDC5 gene. This alteration results from a G to A substitution at nucleotide position 38, causing the arginine (R) at amino acid position 13 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at