11-57705079-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001317078.4(MED19):c.368A>G(p.Asp123Gly) variant causes a missense change. The variant allele was found at a frequency of 0.000123 in 1,614,158 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001317078.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MED19 | NM_001317078.4 | c.368A>G | p.Asp123Gly | missense_variant | Exon 2 of 5 | ENST00000431606.5 | NP_001304007.2 | |
MED19 | NM_153450.4 | c.368A>G | p.Asp123Gly | missense_variant | Exon 2 of 4 | NP_703151.3 | ||
MED19 | NR_157587.1 | n.404A>G | non_coding_transcript_exon_variant | Exon 2 of 5 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000138 AC: 21AN: 152148Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000103 AC: 26AN: 251494Hom.: 0 AF XY: 0.000103 AC XY: 14AN XY: 135920
GnomAD4 exome AF: 0.000121 AC: 177AN: 1461892Hom.: 0 Cov.: 33 AF XY: 0.000110 AC XY: 80AN XY: 727246
GnomAD4 genome AF: 0.000138 AC: 21AN: 152266Hom.: 0 Cov.: 31 AF XY: 0.0000806 AC XY: 6AN XY: 74452
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.368A>G (p.D123G) alteration is located in exon 2 (coding exon 2) of the MED19 gene. This alteration results from a A to G substitution at nucleotide position 368, causing the aspartic acid (D) at amino acid position 123 to be replaced by a glycine (G). 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