9-130884719-C-T
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_005157.6(ABL1):c.2429C>T(p.Pro810Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00655 in 1,612,558 control chromosomes in the GnomAD database, including 46 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_005157.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ABL1 | ENST00000318560.6 | c.2429C>T | p.Pro810Leu | missense_variant | Exon 11 of 11 | 1 | NM_005157.6 | ENSP00000323315.5 | ||
ABL1 | ENST00000372348.9 | c.2486C>T | p.Pro829Leu | missense_variant | Exon 11 of 11 | 1 | ENSP00000361423.2 |
Frequencies
GnomAD3 genomes AF: 0.00480 AC: 731AN: 152160Hom.: 2 Cov.: 33
GnomAD3 exomes AF: 0.00538 AC: 1318AN: 244984Hom.: 4 AF XY: 0.00541 AC XY: 725AN XY: 134024
GnomAD4 exome AF: 0.00673 AC: 9833AN: 1460280Hom.: 44 Cov.: 32 AF XY: 0.00670 AC XY: 4867AN XY: 726418
GnomAD4 genome AF: 0.00480 AC: 731AN: 152278Hom.: 2 Cov.: 33 AF XY: 0.00461 AC XY: 343AN XY: 74466
ClinVar
Submissions by phenotype
not provided Benign:3
- -
ABL1: BS2 -
- -
not specified Other:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at