12-10098846-C-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_016511.4(CLEC1A):c.77G>C(p.Gly26Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.835 in 1,612,902 control chromosomes in the GnomAD database, including 575,530 homozygotes. 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 Benign (★★).
Frequency
Consequence
NM_016511.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.836 AC: 127161AN: 152036Hom.: 54423 Cov.: 31
GnomAD3 exomes AF: 0.753 AC: 188072AN: 249870Hom.: 75770 AF XY: 0.759 AC XY: 102515AN XY: 135038
GnomAD4 exome AF: 0.834 AC: 1218965AN: 1460748Hom.: 521071 Cov.: 47 AF XY: 0.830 AC XY: 603306AN XY: 726576
GnomAD4 genome AF: 0.836 AC: 127241AN: 152154Hom.: 54459 Cov.: 31 AF XY: 0.828 AC XY: 61587AN XY: 74372
ClinVar
Submissions by phenotype
not provided Benign:2
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This variant is associated with the following publications: (PMID: 29489751) -
Aspergillosis, susceptibility to Other:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at