chr12-10126667-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_197947.3(CLEC7A):c.244G>A(p.Gly82Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000353 in 1,612,562 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_197947.3 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 |
---|---|---|---|---|---|---|---|
CLEC7A | NM_197947.3 | c.244G>A | p.Gly82Ser | missense_variant | 3/6 | ENST00000304084.13 | |
LOC105369655 | XR_007063208.1 | n.182-4414C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CLEC7A | ENST00000304084.13 | c.244G>A | p.Gly82Ser | missense_variant | 3/6 | 1 | NM_197947.3 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.000164 AC: 25AN: 152076Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000403 AC: 10AN: 248332Hom.: 0 AF XY: 0.0000371 AC XY: 5AN XY: 134832
GnomAD4 exome AF: 0.0000219 AC: 32AN: 1460486Hom.: 0 Cov.: 31 AF XY: 0.0000220 AC XY: 16AN XY: 726608
GnomAD4 genome ? AF: 0.000164 AC: 25AN: 152076Hom.: 0 Cov.: 32 AF XY: 0.000188 AC XY: 14AN XY: 74280
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 12, 2021 | The c.244G>A (p.G82S) alteration is located in exon 3 (coding exon 3) of the CLEC7A gene. This alteration results from a G to A substitution at nucleotide position 244, causing the glycine (G) at amino acid position 82 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at