X-40682946-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_004229.4(MED14):c.2108G>A(p.Arg703His) variant causes a missense change. The variant allele was found at a frequency of 0.0000695 in 1,208,149 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 31 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004229.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000626 AC: 7AN: 111878Hom.: 0 Cov.: 23 AF XY: 0.0000293 AC XY: 1AN XY: 34080
GnomAD3 exomes AF: 0.0000494 AC: 9AN: 182046Hom.: 0 AF XY: 0.0000599 AC XY: 4AN XY: 66732
GnomAD4 exome AF: 0.0000702 AC: 77AN: 1096271Hom.: 0 Cov.: 30 AF XY: 0.0000829 AC XY: 30AN XY: 361691
GnomAD4 genome AF: 0.0000626 AC: 7AN: 111878Hom.: 0 Cov.: 23 AF XY: 0.0000293 AC XY: 1AN XY: 34080
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2108G>A (p.R703H) alteration is located in exon 17 (coding exon 17) of the MED14 gene. This alteration results from a G to A substitution at nucleotide position 2108, causing the arginine (R) at amino acid position 703 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at