chr17-80997010-A-T
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_024591.5(CHMP6):c.352A>T(p.Met118Leu) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,296 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/22 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. M118V) has been classified as Uncertain significance.
Frequency
Consequence
NM_024591.5 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CHMP6 | ENST00000325167.9 | c.352A>T | p.Met118Leu | missense_variant | Exon 5 of 8 | 1 | NM_024591.5 | ENSP00000317468.5 | ||
CHMP6 | ENST00000572778.5 | c.289A>T | p.Met97Leu | missense_variant | Exon 4 of 6 | 2 | ENSP00000461098.1 | |||
CHMP6 | ENST00000571457.1 | c.226A>T | p.Met76Leu | missense_variant | Exon 4 of 7 | 3 | ENSP00000461238.1 | |||
CHMP6 | ENST00000572525.5 | c.94A>T | p.Met32Leu | missense_variant | Exon 5 of 8 | 3 | ENSP00000460389.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461296Hom.: 0 Cov.: 40 AF XY: 0.00000138 AC XY: 1AN XY: 726948 show subpopulations
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at