9-34564808-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_147164.3(CNTFR):c.110G>A(p.Arg37His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000304 in 1,613,552 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 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. R37C) has been classified as Uncertain significance.
Frequency
Consequence
NM_147164.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CNTFR | ENST00000378980.8 | c.110G>A | p.Arg37His | missense_variant | Exon 4 of 10 | 1 | NM_147164.3 | ENSP00000368265.3 | ||
CNTFR | ENST00000351266.8 | c.110G>A | p.Arg37His | missense_variant | Exon 3 of 9 | 1 | ENSP00000242338.4 | |||
CNTFR | ENST00000610543.4 | c.110G>A | p.Arg37His | missense_variant | Exon 4 of 10 | 5 | ENSP00000480451.1 | |||
CNTFR | ENST00000417345.2 | c.110G>A | p.Arg37His | missense_variant | Exon 4 of 7 | 3 | ENSP00000388082.1 |
Frequencies
GnomAD3 genomes AF: 0.00000659 AC: 1AN: 151842Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000800 AC: 2AN: 249974Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135268
GnomAD4 exome AF: 0.0000328 AC: 48AN: 1461710Hom.: 0 Cov.: 32 AF XY: 0.0000289 AC XY: 21AN XY: 727170
GnomAD4 genome AF: 0.00000659 AC: 1AN: 151842Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74150
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.110G>A (p.R37H) alteration is located in exon 4 (coding exon 2) of the CNTFR gene. This alteration results from a G to A substitution at nucleotide position 110, causing the arginine (R) at amino acid position 37 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