rs561653481
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_024422.6(DSC2):c.408A>T(p.Arg136Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000118 in 1,613,948 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. R136R) 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 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DSC2 | NM_024422.6 | c.408A>T | p.Arg136Ser | missense_variant | 4/16 | ENST00000280904.11 | |
DSC2 | NM_004949.5 | c.408A>T | p.Arg136Ser | missense_variant | 4/17 | ||
DSC2 | NM_001406506.1 | c.-22A>T | 5_prime_UTR_variant | 4/16 | |||
DSC2 | NM_001406507.1 | c.-22A>T | 5_prime_UTR_variant | 4/17 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DSC2 | ENST00000280904.11 | c.408A>T | p.Arg136Ser | missense_variant | 4/16 | 1 | NM_024422.6 | P1 | |
DSC2 | ENST00000251081.8 | c.408A>T | p.Arg136Ser | missense_variant | 4/17 | 1 | |||
DSC2 | ENST00000648081.1 | c.-22A>T | 5_prime_UTR_variant | 5/17 | |||||
DSC2 | ENST00000682357.1 | c.-22A>T | 5_prime_UTR_variant | 4/16 |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 3AN: 152172Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000109 AC: 16AN: 1461776Hom.: 0 Cov.: 31 AF XY: 0.0000110 AC XY: 8AN XY: 727194
GnomAD4 genome ? AF: 0.0000197 AC: 3AN: 152172Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74348
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at