NM_002838.5:c.1029G>A
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_002838.5(PTPRC):c.1029G>A(p.Gln343Gln) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0158 in 1,605,048 control chromosomes in the GnomAD database, including 293 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_002838.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0140 AC: 2136AN: 152140Hom.: 25 Cov.: 33
GnomAD3 exomes AF: 0.0150 AC: 3757AN: 250326Hom.: 53 AF XY: 0.0155 AC XY: 2096AN XY: 135548
GnomAD4 exome AF: 0.0160 AC: 23173AN: 1452790Hom.: 268 Cov.: 30 AF XY: 0.0159 AC XY: 11467AN XY: 722920
GnomAD4 genome AF: 0.0141 AC: 2142AN: 152258Hom.: 25 Cov.: 33 AF XY: 0.0152 AC XY: 1133AN XY: 74438
ClinVar
Submissions by phenotype
not specified Benign:1
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
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Immunodeficiency 104 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at