rs201147144
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_024422.6(DSC2):c.630+8C>T variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000248 in 1,613,550 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_024422.6 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DSC2 | NM_024422.6 | c.630+8C>T | splice_region_variant, intron_variant | ENST00000280904.11 | |||
DSC2 | NM_001406506.1 | c.201+8C>T | splice_region_variant, intron_variant | ||||
DSC2 | NM_001406507.1 | c.201+8C>T | splice_region_variant, intron_variant | ||||
DSC2 | NM_004949.5 | c.630+8C>T | splice_region_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DSC2 | ENST00000280904.11 | c.630+8C>T | splice_region_variant, intron_variant | 1 | NM_024422.6 | P1 | |||
DSC2 | ENST00000251081.8 | c.630+8C>T | splice_region_variant, intron_variant | 1 | |||||
DSC2 | ENST00000648081.1 | c.201+8C>T | splice_region_variant, intron_variant | ||||||
DSC2 | ENST00000682357.1 | c.201+8C>T | splice_region_variant, intron_variant |
Frequencies
GnomAD3 genomes ? AF: 0.000118 AC: 18AN: 152096Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 251316Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135836
GnomAD4 exome AF: 0.0000151 AC: 22AN: 1461336Hom.: 0 Cov.: 31 AF XY: 0.0000165 AC XY: 12AN XY: 726998
GnomAD4 genome ? AF: 0.000118 AC: 18AN: 152214Hom.: 0 Cov.: 32 AF XY: 0.000134 AC XY: 10AN XY: 74414
ClinVar
Submissions by phenotype
Arrhythmogenic right ventricular dysplasia 11 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 24, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at