chr14-23069513-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001386863.1(ACIN1):c.2228G>A(p.Arg743His) variant causes a missense change. The variant allele was found at a frequency of 0.0000242 in 1,614,008 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R743C) has been classified 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ACIN1 | NM_001386863.1 | c.2228G>A | p.Arg743His | missense_variant | 9/19 | ENST00000605057.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACIN1 | ENST00000605057.6 | c.2228G>A | p.Arg743His | missense_variant | 9/19 | 1 | NM_001386863.1 |
Frequencies
GnomAD3 genomes AF: 0.0000986 AC: 15AN: 152176Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 251220Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135784
GnomAD4 exome AF: 0.0000164 AC: 24AN: 1461714Hom.: 0 Cov.: 36 AF XY: 0.0000151 AC XY: 11AN XY: 727172
GnomAD4 genome AF: 0.0000985 AC: 15AN: 152294Hom.: 0 Cov.: 32 AF XY: 0.0000537 AC XY: 4AN XY: 74462
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 27, 2022 | The c.2402G>A (p.R801H) alteration is located in exon 9 (coding exon 9) of the ACIN1 gene. This alteration results from a G to A substitution at nucleotide position 2402, causing the arginine (R) at amino acid position 801 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