rs187377817
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BS1BS2
The NM_005120.3(MED12):c.1248+15T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00464 in 1,209,524 control chromosomes in the GnomAD database, including 16 homozygotes. There are 1,772 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_005120.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00299 AC: 336AN: 112286Hom.: 0 Cov.: 23 AF XY: 0.00279 AC XY: 96AN XY: 34450
GnomAD3 exomes AF: 0.00316 AC: 575AN: 181756Hom.: 1 AF XY: 0.00318 AC XY: 215AN XY: 67584
GnomAD4 exome AF: 0.00481 AC: 5279AN: 1097183Hom.: 16 Cov.: 32 AF XY: 0.00462 AC XY: 1676AN XY: 362551
GnomAD4 genome AF: 0.00299 AC: 336AN: 112341Hom.: 0 Cov.: 23 AF XY: 0.00278 AC XY: 96AN XY: 34515
ClinVar
Submissions by phenotype
not specified Uncertain:1Benign:2
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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. -
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not provided Benign:2
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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