9-34552686-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_147164.3(CNTFR):c.937G>A(p.Ala313Thr) 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. 13/20 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. A313S) 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 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CNTFR | ENST00000378980.8 | c.937G>A | p.Ala313Thr | missense_variant | Exon 8 of 10 | 1 | NM_147164.3 | ENSP00000368265.3 | ||
CNTFR | ENST00000351266.8 | c.937G>A | p.Ala313Thr | missense_variant | Exon 7 of 9 | 1 | ENSP00000242338.4 | |||
CNTFR | ENST00000610543.4 | c.937G>A | p.Ala313Thr | missense_variant | Exon 8 of 10 | 5 | ENSP00000480451.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at