rs367752002
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000379802.8(DSP):āc.2684A>Cā(p.Tyr895Ser) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,814 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 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. Y895C) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000379802.8 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DSP | NM_004415.4 | c.2684A>C | p.Tyr895Ser | missense_variant | 19/24 | ENST00000379802.8 | NP_004406.2 | |
DSP | NM_001319034.2 | c.2684A>C | p.Tyr895Ser | missense_variant | 19/24 | NP_001305963.1 | ||
DSP | NM_001008844.3 | c.2684A>C | p.Tyr895Ser | missense_variant | 19/24 | NP_001008844.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DSP | ENST00000379802.8 | c.2684A>C | p.Tyr895Ser | missense_variant | 19/24 | 1 | NM_004415.4 | ENSP00000369129 | P2 | |
DSP | ENST00000418664.2 | c.2684A>C | p.Tyr895Ser | missense_variant | 19/24 | 1 | ENSP00000396591 | A2 | ||
DSP | ENST00000710359.1 | c.2684A>C | p.Tyr895Ser | missense_variant | 19/24 | ENSP00000518230 | A2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251304Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135816
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461814Hom.: 0 Cov.: 34 AF XY: 0.00000138 AC XY: 1AN XY: 727210
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at