rs777004957
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_024422.6(DSC2):c.2287G>T(p.Ala763Ser) 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. 16/21 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. A763T) has been classified as Likely benign.
Frequency
Consequence
NM_024422.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DSC2 | NM_024422.6 | c.2287G>T | p.Ala763Ser | missense_variant | 15/16 | ENST00000280904.11 | NP_077740.1 | |
DSC2 | NM_004949.5 | c.2287G>T | p.Ala763Ser | missense_variant | 15/17 | NP_004940.1 | ||
DSC2 | NM_001406506.1 | c.1858G>T | p.Ala620Ser | missense_variant | 15/16 | NP_001393435.1 | ||
DSC2 | NM_001406507.1 | c.1858G>T | p.Ala620Ser | missense_variant | 15/17 | NP_001393436.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DSC2 | ENST00000280904.11 | c.2287G>T | p.Ala763Ser | missense_variant | 15/16 | 1 | NM_024422.6 | ENSP00000280904 | P1 | |
DSC2 | ENST00000251081.8 | c.2287G>T | p.Ala763Ser | missense_variant | 15/17 | 1 | ENSP00000251081 | |||
DSC2 | ENST00000648081.1 | c.1858G>T | p.Ala620Ser | missense_variant | 16/17 | ENSP00000497441 | ||||
DSC2 | ENST00000682357.1 | c.1858G>T | p.Ala620Ser | missense_variant | 15/16 | ENSP00000507826 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at