NM_001386863.1:c.3374G>A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001386863.1(ACIN1):c.3374G>A(p.Arg1125His) variant causes a missense change. The variant allele was found at a frequency of 0.0000223 in 1,614,028 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001386863.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ACIN1 | NM_001386863.1 | c.3374G>A | p.Arg1125His | missense_variant | Exon 17 of 19 | ENST00000605057.6 | NP_001373792.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152214Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 251096Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135730
GnomAD4 exome AF: 0.0000219 AC: 32AN: 1461814Hom.: 0 Cov.: 34 AF XY: 0.0000206 AC XY: 15AN XY: 727202
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152214Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74352
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3548G>A (p.R1183H) alteration is located in exon 17 (coding exon 17) of the ACIN1 gene. This alteration results from a G to A substitution at nucleotide position 3548, causing the arginine (R) at amino acid position 1183 to be replaced by a histidine (H). 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