1-198706934-A-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_002838.5(PTPRC):āc.886A>Cā(p.Ile296Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0175 in 1,603,636 control chromosomes in the GnomAD database, including 359 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ).
Frequency
Consequence
NM_002838.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0165 AC: 2509AN: 152200Hom.: 33 Cov.: 32
GnomAD3 exomes AF: 0.0175 AC: 4389AN: 251218Hom.: 71 AF XY: 0.0177 AC XY: 2407AN XY: 135790
GnomAD4 exome AF: 0.0176 AC: 25512AN: 1451318Hom.: 326 Cov.: 30 AF XY: 0.0175 AC XY: 12656AN XY: 722586
GnomAD4 genome AF: 0.0165 AC: 2518AN: 152318Hom.: 33 Cov.: 32 AF XY: 0.0175 AC XY: 1304AN XY: 74472
ClinVar
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Aug 02, 2013 | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. - |
not provided Benign:1
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Immunodeficiency 104 Benign:1
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jan 31, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at