rs2306392
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001354969.2(MDM1):c.1685C>T(p.Pro562Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.292 in 1,611,628 control chromosomes in the GnomAD database, including 72,222 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001354969.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MDM1 | NM_001354969.2 | c.1685C>T | p.Pro562Leu | missense_variant | 12/15 | ENST00000682720.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MDM1 | ENST00000682720.1 | c.1685C>T | p.Pro562Leu | missense_variant | 12/15 | NM_001354969.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.237 AC: 35956AN: 151990Hom.: 4816 Cov.: 32
GnomAD3 exomes AF: 0.272 AC: 68261AN: 251250Hom.: 10171 AF XY: 0.285 AC XY: 38670AN XY: 135796
GnomAD4 exome AF: 0.298 AC: 435356AN: 1459518Hom.: 67410 Cov.: 33 AF XY: 0.302 AC XY: 219250AN XY: 726150
GnomAD4 genome ? AF: 0.236 AC: 35961AN: 152110Hom.: 4812 Cov.: 32 AF XY: 0.232 AC XY: 17267AN XY: 74370
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at