chr10-104314772-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001272013.2(ITPRIP):c.1280G>A(p.Gly427Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000806 in 1,613,814 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001272013.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ITPRIP | NM_001272013.2 | c.1280G>A | p.Gly427Glu | missense_variant | Exon 2 of 2 | ENST00000337478.3 | NP_001258942.1 | |
ITPRIP | NM_001272012.2 | c.1280G>A | p.Gly427Glu | missense_variant | Exon 2 of 2 | NP_001258941.1 | ||
ITPRIP | NM_033397.4 | c.1280G>A | p.Gly427Glu | missense_variant | Exon 3 of 3 | NP_203755.1 | ||
ITPRIP | XM_005270257.3 | c.1295G>A | p.Gly432Glu | missense_variant | Exon 2 of 2 | XP_005270314.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ITPRIP | ENST00000337478.3 | c.1280G>A | p.Gly427Glu | missense_variant | Exon 2 of 2 | 1 | NM_001272013.2 | ENSP00000337178.1 | ||
ITPRIP | ENST00000278071.6 | c.1280G>A | p.Gly427Glu | missense_variant | Exon 3 of 3 | 1 | ENSP00000278071.2 | |||
ITPRIP | ENST00000358187.2 | c.1280G>A | p.Gly427Glu | missense_variant | Exon 2 of 2 | 2 | ENSP00000350915.2 | |||
ITPRIP | ENST00000647721.1 | c.1280G>A | p.Gly427Glu | missense_variant | Exon 3 of 3 | ENSP00000497746.1 |
Frequencies
GnomAD3 genomes AF: 0.0000920 AC: 14AN: 152204Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000140 AC: 35AN: 249974Hom.: 0 AF XY: 0.000133 AC XY: 18AN XY: 135400
GnomAD4 exome AF: 0.0000794 AC: 116AN: 1461610Hom.: 0 Cov.: 34 AF XY: 0.0000770 AC XY: 56AN XY: 727118
GnomAD4 genome AF: 0.0000920 AC: 14AN: 152204Hom.: 0 Cov.: 33 AF XY: 0.0000941 AC XY: 7AN XY: 74360
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1280G>A (p.G427E) alteration is located in exon 3 (coding exon 1) of the ITPRIP gene. This alteration results from a G to A substitution at nucleotide position 1280, causing the glycine (G) at amino acid position 427 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at