10-114444079-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002313.7(ABLIM1):c.1883G>A(p.Arg628Gln) variant causes a missense change. The variant allele was found at a frequency of 0.000192 in 1,612,796 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. R628W) has been classified as Uncertain significance.
Frequency
Consequence
NM_002313.7 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ABLIM1 | NM_002313.7 | c.1883G>A | p.Arg628Gln | missense_variant | 17/23 | ENST00000533213.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABLIM1 | ENST00000533213.7 | c.1883G>A | p.Arg628Gln | missense_variant | 17/23 | 5 | NM_002313.7 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.000165 AC: 25AN: 151626Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.000164 AC: 41AN: 250720Hom.: 0 AF XY: 0.000125 AC XY: 17AN XY: 135516
GnomAD4 exome AF: 0.000195 AC: 285AN: 1461170Hom.: 0 Cov.: 32 AF XY: 0.000182 AC XY: 132AN XY: 726916
GnomAD4 genome ? AF: 0.000165 AC: 25AN: 151626Hom.: 0 Cov.: 30 AF XY: 0.000162 AC XY: 12AN XY: 74036
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 07, 2023 | The c.1883G>A (p.R628Q) alteration is located in exon 17 (coding exon 17) of the ABLIM1 gene. This alteration results from a G to A substitution at nucleotide position 1883, causing the arginine (R) at amino acid position 628 to be replaced by a glutamine (Q). 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