rs943946433
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP2BP6_Moderate
The NM_001378452.1(ITPR1):c.4435C>T(p.His1479Tyr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000248 in 1,613,778 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. H1479H) has been classified as Benign.
Frequency
Consequence
NM_001378452.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ITPR1 | NM_001378452.1 | c.4435C>T | p.His1479Tyr | missense_variant | 35/62 | ENST00000649015.2 | |
ITPR1 | NM_001168272.2 | c.4390C>T | p.His1464Tyr | missense_variant | 34/61 | ||
ITPR1 | NM_001099952.4 | c.4408C>T | p.His1470Tyr | missense_variant | 35/59 | ||
ITPR1 | NM_002222.7 | c.4363C>T | p.His1455Tyr | missense_variant | 34/58 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ITPR1 | ENST00000649015.2 | c.4435C>T | p.His1479Tyr | missense_variant | 35/62 | NM_001378452.1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000131 AC: 2AN: 152182Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461596Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727092
GnomAD4 genome ? AF: 0.0000131 AC: 2AN: 152182Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74346
ClinVar
Submissions by phenotype
Spinocerebellar ataxia type 29 Benign:1
Likely benign, criteria provided, single submitter | research | Schule lab, Hertie Institute for Clinical Brain Research | Feb 09, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at