rs2076304
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_004415.4(DSP):c.2091A>C(p.Gly697=) 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. G697G) has been classified as Likely 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.2091A>C | p.Gly697= | synonymous_variant | 15/24 | ENST00000379802.8 | |
DSP | NM_001319034.2 | c.2091A>C | p.Gly697= | synonymous_variant | 15/24 | ||
DSP | NM_001008844.3 | c.2091A>C | p.Gly697= | synonymous_variant | 15/24 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DSP | ENST00000379802.8 | c.2091A>C | p.Gly697= | synonymous_variant | 15/24 | 1 | NM_004415.4 | P2 | |
DSP | ENST00000418664.2 | c.2091A>C | p.Gly697= | synonymous_variant | 15/24 | 1 | A2 | ||
DSP | ENST00000710359.1 | c.2091A>C | p.Gly697= | synonymous_variant | 15/24 | A2 | |||
DSP | ENST00000684395.1 | n.732A>C | non_coding_transcript_exon_variant | 2/5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 59
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at