12-50120092-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_032901.4(COX14):āc.49A>Cā(p.Thr17Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000031 in 1,613,800 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_032901.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
COX14 | NM_032901.4 | c.49A>C | p.Thr17Pro | missense_variant | 2/2 | ENST00000550487.6 | |
COX14 | NM_001257133.2 | c.49A>C | p.Thr17Pro | missense_variant | 3/3 | ||
COX14 | NM_001257134.2 | c.49A>C | p.Thr17Pro | missense_variant | 2/2 | ||
COX14 | XM_047429769.1 | c.49A>C | p.Thr17Pro | missense_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
COX14 | ENST00000550487.6 | c.49A>C | p.Thr17Pro | missense_variant | 2/2 | 1 | NM_032901.4 | P1 | |
ENST00000548468.2 | n.105+7791A>C | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152058Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251462Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135914
GnomAD4 exome AF: 0.0000315 AC: 46AN: 1461742Hom.: 0 Cov.: 31 AF XY: 0.0000261 AC XY: 19AN XY: 727190
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152058Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74258
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at