rs34549764
Variant summary
Our verdict is Benign. Variant got -19 ACMG points: 1P and 20B. PP2BP4_StrongBP6_Very_StrongBS1BS2
The NM_005157.6(ABL1):āc.740A>Gā(p.Lys247Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00308 in 1,614,194 control chromosomes in the GnomAD database, including 14 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_005157.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -19 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ABL1 | NM_005157.6 | c.740A>G | p.Lys247Arg | missense_variant | 4/11 | ENST00000318560.6 | NP_005148.2 | |
ABL1 | NM_007313.3 | c.797A>G | p.Lys266Arg | missense_variant | 4/11 | NP_009297.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ABL1 | ENST00000318560.6 | c.740A>G | p.Lys247Arg | missense_variant | 4/11 | 1 | NM_005157.6 | ENSP00000323315.5 | ||
ABL1 | ENST00000372348.9 | c.797A>G | p.Lys266Arg | missense_variant | 4/11 | 1 | ENSP00000361423.2 |
Frequencies
GnomAD3 genomes AF: 0.00248 AC: 378AN: 152186Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.00258 AC: 649AN: 251116Hom.: 2 AF XY: 0.00248 AC XY: 336AN XY: 135754
GnomAD4 exome AF: 0.00314 AC: 4594AN: 1461890Hom.: 13 Cov.: 31 AF XY: 0.00304 AC XY: 2208AN XY: 727248
GnomAD4 genome AF: 0.00248 AC: 378AN: 152304Hom.: 1 Cov.: 32 AF XY: 0.00236 AC XY: 176AN XY: 74478
ClinVar
Submissions by phenotype
not provided Benign:4
Likely benign, no assertion criteria provided | clinical testing | Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | - | - - |
Likely benign, no assertion criteria provided | clinical testing | Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen | - | - - |
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jan 31, 2024 | - - |
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Apr 01, 2023 | ABL1: PP2, BS2 - |
not specified Benign:1Other:1
Benign, no assertion criteria provided | clinical testing | Genome Diagnostics Laboratory, Amsterdam University Medical Center | - | - - |
not provided, no classification provided | reference population | ITMI | Sep 19, 2013 | - - |
ABL1-related disorder Benign:1
Likely benign, no assertion criteria provided | clinical testing | PreventionGenetics, part of Exact Sciences | Jul 29, 2021 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at