rs587783678
Variant summary
Our verdict is Likely pathogenic. The variant received 8 ACMG points: 8P and 0B. PM2PP3_StrongPP5_Moderate
The ENST00000648261.1(ENSG00000285827):c.-773C>G variant causes a 5 prime UTR premature start codon gain change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (★).
Frequency
Consequence
ENST00000648261.1 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
Publications
- Wiedemann-Steiner syndromeInheritance: AD Classification: DEFINITIVE, STRONG, SUPPORTIVE Submitted by: G2P, Orphanet, Illumina, Labcorp Genetics (formerly Invitae), ClinGen
Genome browser will be placed here
ACMG classification
Our verdict: Likely_pathogenic. The variant received 8 ACMG points.
Variant Effect in Transcripts
ACMG analysis was done for transcript: ENST00000648261.1. You can select a different transcript below to see updated ACMG assignments.
RefSeq Transcripts
| Selected | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| KMT2A | NM_001197104.2 | MANE Select | c.458C>G | p.Ser153* | stop_gained | Exon 2 of 36 | NP_001184033.1 | ||
| KMT2A | NM_001412597.1 | c.557C>G | p.Ser186* | stop_gained | Exon 3 of 37 | NP_001399526.1 | |||
| KMT2A | NM_005933.4 | c.458C>G | p.Ser153* | stop_gained | Exon 2 of 36 | NP_005924.2 |
Ensembl Transcripts
| Selected | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| ENSG00000285827 | ENST00000648261.1 | c.-773C>G | 5_prime_UTR_premature_start_codon_gain | Exon 2 of 7 | ENSP00000498126.1 | ||||
| KMT2A | ENST00000534358.8 | TSL:1 MANE Select | c.458C>G | p.Ser153* | stop_gained | Exon 2 of 36 | ENSP00000436786.2 | ||
| KMT2A | ENST00000389506.10 | TSL:1 | c.458C>G | p.Ser153* | stop_gained | Exon 2 of 36 | ENSP00000374157.5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
ClinVar
ClinVar submissions as Germline
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at