chr7-24749655-CT-C
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 8P and 8B. PVS1BS1BS2
The NM_001127453.2(GSDME):c.119delA(p.Lys40ArgfsTer24) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000186 in 1,613,944 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_001127453.2 frameshift
Scores
Clinical Significance
Conservation
Publications
- autosomal dominant nonsyndromic hearing lossInheritance: AD Classification: DEFINITIVE, SUPPORTIVE Submitted by: ClinGen, Orphanet
- autosomal dominant nonsyndromic hearing loss 5Inheritance: AD Classification: STRONG Submitted by: Labcorp Genetics (formerly Invitae), G2P
Genome browser will be placed here
ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GSDME | NM_001127453.2 | c.119delA | p.Lys40ArgfsTer24 | frameshift_variant | Exon 2 of 10 | ENST00000645220.1 | NP_001120925.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152160Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.00000398 AC: 1AN: 251436 AF XY: 0.00 show subpopulations
GnomAD4 exome AF: 0.0000198 AC: 29AN: 1461784Hom.: 0 Cov.: 33 AF XY: 0.0000206 AC XY: 15AN XY: 727200 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152160Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74332 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at