chr2-73641545-A-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_003960.4(NAT8):c.84T>A(p.His28Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00213 in 1,610,478 control chromosomes in the GnomAD database, including 126 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_003960.4 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: 0.00267 AC: 406AN: 152116Hom.: 17 Cov.: 32
GnomAD3 exomes AF: 0.00633 AC: 1565AN: 247094Hom.: 63 AF XY: 0.00584 AC XY: 779AN XY: 133478
GnomAD4 exome AF: 0.00207 AC: 3020AN: 1458244Hom.: 109 Cov.: 31 AF XY: 0.00202 AC XY: 1464AN XY: 725202
GnomAD4 genome AF: 0.00268 AC: 408AN: 152234Hom.: 17 Cov.: 32 AF XY: 0.00320 AC XY: 238AN XY: 74436
ClinVar
Submissions by phenotype
not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at