rs1057745
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_017592.4(MED29):c.*51G>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000978 in 1,431,764 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_017592.4 3_prime_UTR
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MED29 | NM_017592.4 | c.*51G>A | 3_prime_UTR_variant | 4/4 | ENST00000315588.11 | ||
MED29 | NM_001317770.3 | c.584G>A | p.Arg195Lys | missense_variant | 4/4 | ||
MED29 | NR_133915.3 | n.640G>A | non_coding_transcript_exon_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MED29 | ENST00000315588.11 | c.*51G>A | 3_prime_UTR_variant | 4/4 | 1 | NM_017592.4 | P1 | ||
MED29 | ENST00000615911.4 | c.*51G>A | 3_prime_UTR_variant | 4/4 | 1 | ||||
MED29 | ENST00000594368.5 | c.584G>A | p.Arg195Lys | missense_variant | 4/4 | 2 | |||
MED29 | ENST00000599417.2 | c.*367G>A | 3_prime_UTR_variant, NMD_transcript_variant | 3/3 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.0000134 AC: 3AN: 223090Hom.: 0 AF XY: 0.0000247 AC XY: 3AN XY: 121674
GnomAD4 exome AF: 0.00000978 AC: 14AN: 1431764Hom.: 0 Cov.: 32 AF XY: 0.0000183 AC XY: 13AN XY: 710130
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at