chr12-10127818-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.131G>A(p.Arg44His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000561 in 1,569,444 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 Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R44C) has been classified 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.131G>A | p.Arg44His | missense_variant | 2/6 | ENST00000304084.13 | |
LOC105369655 | XR_007063208.1 | n.182-3263C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CLEC7A | ENST00000304084.13 | c.131G>A | p.Arg44His | missense_variant | 2/6 | 1 | NM_197947.3 | P4 |
Frequencies
GnomAD3 genomes AF: 0.0000658 AC: 10AN: 151946Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000441 AC: 8AN: 181278Hom.: 0 AF XY: 0.0000419 AC XY: 4AN XY: 95552
GnomAD4 exome AF: 0.0000550 AC: 78AN: 1417498Hom.: 0 Cov.: 30 AF XY: 0.0000485 AC XY: 34AN XY: 700634
GnomAD4 genome AF: 0.0000658 AC: 10AN: 151946Hom.: 0 Cov.: 31 AF XY: 0.0000539 AC XY: 4AN XY: 74180
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 08, 2022 | The c.131G>A (p.R44H) alteration is located in exon 2 (coding exon 2) of the CLEC7A gene. This alteration results from a G to A substitution at nucleotide position 131, causing the arginine (R) at amino acid position 44 to be replaced by a histidine (H). 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