rs749802630
Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP4BP6_Very_StrongBS1BS2
The NM_005120.3(MED12):c.46C>A(p.Arg16Arg) variant causes a synonymous change. The variant allele was found at a frequency of 0.0000191 in 1,206,141 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 8 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_005120.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -17 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000101 AC: 11AN: 108577Hom.: 0 Cov.: 20 AF XY: 0.000162 AC XY: 5AN XY: 30855
GnomAD3 exomes AF: 0.0000226 AC: 4AN: 176965Hom.: 0 AF XY: 0.0000153 AC XY: 1AN XY: 65183
GnomAD4 exome AF: 0.0000109 AC: 12AN: 1097515Hom.: 0 Cov.: 31 AF XY: 0.00000826 AC XY: 3AN XY: 363023
GnomAD4 genome AF: 0.000101 AC: 11AN: 108626Hom.: 0 Cov.: 20 AF XY: 0.000162 AC XY: 5AN XY: 30914
ClinVar
Submissions by phenotype
Familial thoracic aortic aneurysm and aortic dissection Benign:1
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
FG syndrome Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at