rs886039392
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4BP7
The NM_001378452.1(ITPR1):c.805C>A(p.Arg269=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,461,282 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R269R) has been classified as Likely benign.
Frequency
Consequence
NM_001378452.1 synonymous
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 | UniProt |
---|---|---|---|---|---|---|---|
ITPR1 | NM_001378452.1 | c.805C>A | p.Arg269= | synonymous_variant | 10/62 | ENST00000649015.2 | |
ITPR1 | NM_001168272.2 | c.805C>A | p.Arg269= | synonymous_variant | 10/61 | ||
ITPR1 | NM_001099952.4 | c.805C>A | p.Arg269= | synonymous_variant | 10/59 | ||
ITPR1 | NM_002222.7 | c.805C>A | p.Arg269= | synonymous_variant | 10/58 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ITPR1 | ENST00000649015.2 | c.805C>A | p.Arg269= | synonymous_variant | 10/62 | NM_001378452.1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461282Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 726878
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at