9-130884916-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP2
The NM_005157.6(ABL1):c.2626A>T(p.Arg876Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000248 in 1,611,434 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R876G) has been classified as Likely benign.
Frequency
Consequence
NM_005157.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ABL1 | NM_005157.6 | c.2626A>T | p.Arg876Trp | missense_variant | 11/11 | ENST00000318560.6 | |
ABL1 | NM_007313.3 | c.2683A>T | p.Arg895Trp | missense_variant | 11/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABL1 | ENST00000318560.6 | c.2626A>T | p.Arg876Trp | missense_variant | 11/11 | 1 | NM_005157.6 | ||
ABL1 | ENST00000372348.9 | c.2683A>T | p.Arg895Trp | missense_variant | 11/11 | 1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152156Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000126 AC: 3AN: 238338Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 131048
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1459278Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 725844
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152156Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74342
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 26, 2023 | The c.2683A>T (p.R895W) alteration is located in exon 11 (coding exon 11) of the ABL1 gene. This alteration results from a A to T substitution at nucleotide position 2683, causing the arginine (R) at amino acid position 895 to be replaced by a tryptophan (W). 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