chr17-7075164-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001330070.2(CLEC10A):c.760G>A(p.Asp254Asn) variant causes a missense change. The variant allele was found at a frequency of 0.0000168 in 1,603,874 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001330070.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152232Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000828 AC: 2AN: 241666Hom.: 0 AF XY: 0.0000152 AC XY: 2AN XY: 131164
GnomAD4 exome AF: 0.0000110 AC: 16AN: 1451642Hom.: 0 Cov.: 31 AF XY: 0.0000125 AC XY: 9AN XY: 721950
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152232Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74368
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.841G>A (p.D281N) alteration is located in exon 9 (coding exon 8) of the CLEC10A gene. This alteration results from a G to A substitution at nucleotide position 841, causing the aspartic acid (D) at amino acid position 281 to be replaced by an asparagine (N). 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