chrX-40682614-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.2354G>A(p.Arg785His) variant causes a missense change. The variant allele was found at a frequency of 0.00015 in 1,168,670 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 53 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: 0.0000642 AC: 7AN: 109011Hom.: 0 Cov.: 22 AF XY: 0.0000635 AC XY: 2AN XY: 31475
GnomAD3 exomes AF: 0.0000463 AC: 6AN: 129578Hom.: 0 AF XY: 0.0000261 AC XY: 1AN XY: 38270
GnomAD4 exome AF: 0.000159 AC: 168AN: 1059659Hom.: 0 Cov.: 29 AF XY: 0.000149 AC XY: 51AN XY: 341141
GnomAD4 genome AF: 0.0000642 AC: 7AN: 109011Hom.: 0 Cov.: 22 AF XY: 0.0000635 AC XY: 2AN XY: 31475
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2354G>A (p.R785H) alteration is located in exon 18 (coding exon 18) of the MED14 gene. This alteration results from a G to A substitution at nucleotide position 2354, causing the arginine (R) at amino acid position 785 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