12-9971669-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_138337.6(CLEC12A):c.73G>A(p.Gly25Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000969 in 1,609,318 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_138337.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CLEC12A | NM_138337.6 | c.73G>A | p.Gly25Ser | missense_variant | 1/6 | ENST00000304361.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CLEC12A | ENST00000304361.9 | c.73G>A | p.Gly25Ser | missense_variant | 1/6 | 1 | NM_138337.6 | P2 |
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152100Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000443 AC: 11AN: 248386Hom.: 0 AF XY: 0.0000521 AC XY: 7AN XY: 134352
GnomAD4 exome AF: 0.000100 AC: 146AN: 1457218Hom.: 0 Cov.: 31 AF XY: 0.0000924 AC XY: 67AN XY: 724856
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152100Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74306
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at