chr6-7575480-C-A
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_ModerateBP6_ModerateBP7
The NM_004415.4(DSP):c.2622C>A(p.Ile874=) variant causes a synonymous 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. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. I874I) has been classified as Benign.
Frequency
Consequence
NM_004415.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DSP | NM_004415.4 | c.2622C>A | p.Ile874= | synonymous_variant | 18/24 | ENST00000379802.8 | |
DSP | NM_001319034.2 | c.2622C>A | p.Ile874= | synonymous_variant | 18/24 | ||
DSP | NM_001008844.3 | c.2622C>A | p.Ile874= | synonymous_variant | 18/24 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DSP | ENST00000379802.8 | c.2622C>A | p.Ile874= | synonymous_variant | 18/24 | 1 | NM_004415.4 | P2 | |
DSP | ENST00000418664.2 | c.2622C>A | p.Ile874= | synonymous_variant | 18/24 | 1 | A2 | ||
DSP | ENST00000710359.1 | c.2622C>A | p.Ile874= | synonymous_variant | 18/24 | A2 | |||
DSP | ENST00000684395.1 | n.1263C>A | non_coding_transcript_exon_variant | 5/5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1461830Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 727222
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Arrhythmogenic right ventricular dysplasia 8;C1854063:Arrhythmogenic cardiomyopathy with wooly hair and keratoderma Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Apr 15, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.