rs61754525
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP6
The ENST00000251871.9(MED17):āc.1449C>Gā(p.Gly483=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000682 in 1,611,988 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
ENST00000251871.9 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MED17 | NM_004268.5 | c.1449C>G | p.Gly483= | synonymous_variant | 9/12 | ENST00000251871.9 | NP_004259.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MED17 | ENST00000251871.9 | c.1449C>G | p.Gly483= | synonymous_variant | 9/12 | 1 | NM_004268.5 | ENSP00000251871 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000395 AC: 6AN: 151992Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000879 AC: 22AN: 250402Hom.: 0 AF XY: 0.0000813 AC XY: 11AN XY: 135328
GnomAD4 exome AF: 0.0000706 AC: 103AN: 1459878Hom.: 0 Cov.: 32 AF XY: 0.0000661 AC XY: 48AN XY: 726242
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152110Hom.: 0 Cov.: 32 AF XY: 0.0000673 AC XY: 5AN XY: 74324
ClinVar
Submissions by phenotype
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Uncertain:2
Uncertain significance, criteria provided, single submitter | clinical testing | Baylor Genetics | Dec 19, 2019 | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. - |
Uncertain significance, no assertion criteria provided | clinical testing | Natera, Inc. | Apr 17, 2020 | - - |
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Apr 14, 2015 | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jan 28, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at