20-63555850-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001319152.2(FNDC11):c.187C>T(p.Arg63Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000397 in 1,613,016 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001319152.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FNDC11 | ENST00000370097.2 | c.187C>T | p.Arg63Cys | missense_variant | Exon 2 of 2 | 2 | NM_001319152.2 | ENSP00000359115.1 | ||
FNDC11 | ENST00000370098.4 | c.187C>T | p.Arg63Cys | missense_variant | Exon 2 of 2 | 1 | ENSP00000359116.3 | |||
FNDC11 | ENST00000615526.1 | c.187C>T | p.Arg63Cys | missense_variant | Exon 1 of 1 | 6 | ENSP00000480914.1 | |||
FNDC11 | ENST00000611891.1 | c.187C>T | p.Arg63Cys | missense_variant | Exon 2 of 2 | 3 | ENSP00000483577.1 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152258Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000320 AC: 8AN: 249782Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135368
GnomAD4 exome AF: 0.0000397 AC: 58AN: 1460758Hom.: 0 Cov.: 76 AF XY: 0.0000303 AC XY: 22AN XY: 726720
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152258Hom.: 0 Cov.: 34 AF XY: 0.0000403 AC XY: 3AN XY: 74380
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.187C>T (p.R63C) alteration is located in exon 2 (coding exon 1) of the FNDC11 gene. This alteration results from a C to T substitution at nucleotide position 187, causing the arginine (R) at amino acid position 63 to be replaced by a cysteine (C). 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