18-31087690-T-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_024422.6(DSC2):c.754A>T(p.Ile252Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/21 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. I252V) has been classified as Likely benign.
Frequency
Consequence
NM_024422.6 missense
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 | UniProt |
---|---|---|---|---|---|---|---|
DSC2 | NM_024422.6 | c.754A>T | p.Ile252Phe | missense_variant | 6/16 | ENST00000280904.11 | |
DSC2 | NM_004949.5 | c.754A>T | p.Ile252Phe | missense_variant | 6/17 | ||
DSC2 | NM_001406506.1 | c.325A>T | p.Ile109Phe | missense_variant | 6/16 | ||
DSC2 | NM_001406507.1 | c.325A>T | p.Ile109Phe | missense_variant | 6/17 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DSC2 | ENST00000280904.11 | c.754A>T | p.Ile252Phe | missense_variant | 6/16 | 1 | NM_024422.6 | P1 | |
DSC2 | ENST00000251081.8 | c.754A>T | p.Ile252Phe | missense_variant | 6/17 | 1 | |||
DSC2 | ENST00000648081.1 | c.325A>T | p.Ile109Phe | missense_variant | 7/17 | ||||
DSC2 | ENST00000682357.1 | c.325A>T | p.Ile109Phe | missense_variant | 6/16 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250730Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135572
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 6.85e-7 AC: 1AN: 1460696Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 726704
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at