1-108830574-C-T
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_152763.5(AKNAD1):c.1823G>A(p.Arg608His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00113 in 1,614,010 control chromosomes in the GnomAD database, including 21 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R608L) has been classified as Uncertain significance.
Frequency
Consequence
NM_152763.5 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AKNAD1 | NM_152763.5 | c.1823G>A | p.Arg608His | missense_variant | Exon 10 of 16 | ENST00000370001.8 | NP_689976.2 | |
AKNAD1 | NR_049760.2 | n.2035G>A | non_coding_transcript_exon_variant | Exon 9 of 14 | ||||
LOC105378891 | XR_007066273.1 | n.148-3616C>T | intron_variant | Intron 2 of 4 | ||||
LOC105378891 | XR_947687.3 | n.123-3616C>T | intron_variant | Intron 2 of 4 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00591 AC: 899AN: 152162Hom.: 12 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.00160 AC: 401AN: 251184 AF XY: 0.00121 show subpopulations
GnomAD4 exome AF: 0.000633 AC: 926AN: 1461730Hom.: 9 Cov.: 31 AF XY: 0.000556 AC XY: 404AN XY: 727172 show subpopulations
GnomAD4 genome AF: 0.00592 AC: 902AN: 152280Hom.: 12 Cov.: 32 AF XY: 0.00583 AC XY: 434AN XY: 74472 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at