chr1-108830574-C-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_152763.5(AKNAD1):c.1823G>T(p.Arg608Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000062 in 1,613,896 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152763.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AKNAD1 | NM_152763.5 | c.1823G>T | p.Arg608Leu | missense_variant | 10/16 | ENST00000370001.8 | |
LOC105378891 | XR_947687.3 | n.123-3616C>A | intron_variant, non_coding_transcript_variant | ||||
AKNAD1 | NR_049760.2 | n.2035G>T | non_coding_transcript_exon_variant | 9/14 | |||
LOC105378891 | XR_007066273.1 | n.148-3616C>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AKNAD1 | ENST00000370001.8 | c.1823G>T | p.Arg608Leu | missense_variant | 10/16 | 1 | NM_152763.5 | P2 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152164Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251184Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135770
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461732Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727172
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152164Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74344
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 18, 2021 | The c.1823G>T (p.R608L) alteration is located in exon 10 (coding exon 9) of the AKNAD1 gene. This alteration results from a G to T substitution at nucleotide position 1823, causing the arginine (R) at amino acid position 608 to be replaced by a leucine (L). 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