chr12-50120145-C-G
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_ModerateBP6_ModerateBP7
The NM_032901.4(COX14):c.102C>G(p.Val34Val) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,814 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 Likely benign (★).
Frequency
Consequence
NM_032901.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
COX14 | NM_032901.4 | c.102C>G | p.Val34Val | synonymous_variant | Exon 2 of 2 | ENST00000550487.6 | NP_116290.1 | |
COX14 | NM_001257133.2 | c.102C>G | p.Val34Val | synonymous_variant | Exon 3 of 3 | NP_001244062.1 | ||
COX14 | NM_001257134.2 | c.102C>G | p.Val34Val | synonymous_variant | Exon 2 of 2 | NP_001244063.1 | ||
COX14 | XM_047429769.1 | c.102C>G | p.Val34Val | synonymous_variant | Exon 3 of 3 | XP_047285725.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461814Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727214
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.