1-244835723-C-G
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_198076.6(COX20):c.9C>G(p.Ala3Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000896 in 1,116,572 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 (★). Synonymous variant affecting the same amino acid position (i.e. A3A) has been classified as Likely benign.
Frequency
Consequence
NM_198076.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
COX20 | ENST00000411948.7 | c.9C>G | p.Ala3Ala | synonymous_variant | Exon 1 of 4 | 1 | NM_198076.6 | ENSP00000406327.2 | ||
COX20 | ENST00000391839.6 | n.68C>G | non_coding_transcript_exon_variant | Exon 1 of 3 | 1 | |||||
COX20 | ENST00000366528.3 | c.9C>G | p.Ala3Ala | synonymous_variant | Exon 1 of 5 | 2 | ENSP00000355486.3 | |||
COX20 | ENST00000498262.1 | n.65C>G | non_coding_transcript_exon_variant | Exon 1 of 4 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 8.96e-7 AC: 1AN: 1116572Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 534420
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at