X-30218973-C-T
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_002364.5(MAGEB2):c.393C>T(p.Ser131Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000151 in 1,208,666 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 35 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_002364.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000759 AC: 85AN: 112034Hom.: 0 Cov.: 24 AF XY: 0.000380 AC XY: 13AN XY: 34222
GnomAD3 exomes AF: 0.000173 AC: 31AN: 179211Hom.: 0 AF XY: 0.000109 AC XY: 7AN XY: 63977
GnomAD4 exome AF: 0.0000894 AC: 98AN: 1096579Hom.: 0 Cov.: 32 AF XY: 0.0000608 AC XY: 22AN XY: 362017
GnomAD4 genome AF: 0.000758 AC: 85AN: 112087Hom.: 0 Cov.: 24 AF XY: 0.000379 AC XY: 13AN XY: 34285
ClinVar
Submissions by phenotype
not provided Benign:1
MAGEB2: BP4, BP7 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at