2-197705429-C-G
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_138395.4(MARS2):c.24C>G(p.Arg8Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00142 in 1,611,374 control chromosomes in the GnomAD database, including 27 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Synonymous variant affecting the same amino acid position (i.e. R8R) has been classified as Likely benign.
Frequency
Consequence
NM_138395.4 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: 0.00673 AC: 1025AN: 152244Hom.: 17 Cov.: 33
GnomAD3 exomes AF: 0.00194 AC: 476AN: 245374Hom.: 8 AF XY: 0.00150 AC XY: 201AN XY: 133850
GnomAD4 exome AF: 0.000855 AC: 1248AN: 1459012Hom.: 10 Cov.: 31 AF XY: 0.000722 AC XY: 524AN XY: 725794
GnomAD4 genome AF: 0.00679 AC: 1035AN: 152362Hom.: 17 Cov.: 33 AF XY: 0.00647 AC XY: 482AN XY: 74520
ClinVar
Submissions by phenotype
not provided Benign:2
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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. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at