1-32864671-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_153756.3(FNDC5):c.626G>A(p.Arg209His) variant causes a missense change. The variant allele was found at a frequency of 0.0000725 in 1,614,044 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar 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.626G>A | p.Arg209His | missense_variant | Exon 5 of 6 | ENST00000373471.9 | NP_715637.2 | |
FNDC5 | NM_001171941.3 | c.401G>A | p.Arg134His | missense_variant | Exon 5 of 5 | NP_001165412.1 | ||
FNDC5 | NM_001171940.2 | c.531+95G>A | intron_variant | Intron 5 of 5 | NP_001165411.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FNDC5 | ENST00000373471.9 | c.626G>A | p.Arg209His | missense_variant | Exon 5 of 6 | 2 | NM_153756.3 | ENSP00000362570.5 |
Frequencies
GnomAD3 genomes AF: 0.0000788 AC: 12AN: 152214Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000636 AC: 16AN: 251434Hom.: 0 AF XY: 0.0000662 AC XY: 9AN XY: 135892
GnomAD4 exome AF: 0.0000718 AC: 105AN: 1461710Hom.: 1 Cov.: 69 AF XY: 0.0000784 AC XY: 57AN XY: 727164
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152334Hom.: 0 Cov.: 32 AF XY: 0.0000805 AC XY: 6AN XY: 74496
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.401G>A (p.R134H) alteration is located in exon 5 (coding exon 3) of the FNDC5 gene. This alteration results from a G to A substitution at nucleotide position 401, causing the arginine (R) at amino acid position 134 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