14-92951982-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_014216.6(ITPK1):c.702C>G(p.Asn234Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000292 in 1,577,160 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014216.6 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 |
---|---|---|---|---|---|---|---|
ITPK1 | NM_014216.6 | c.702C>G | p.Asn234Lys | missense_variant | 9/11 | ENST00000267615.11 | |
LOC124903366 | XR_007064312.1 | upstream_gene_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ITPK1 | ENST00000267615.11 | c.702C>G | p.Asn234Lys | missense_variant | 9/11 | 1 | NM_014216.6 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152178Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000521 AC: 1AN: 191784Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 102296
GnomAD4 exome AF: 0.0000316 AC: 45AN: 1424982Hom.: 0 Cov.: 31 AF XY: 0.0000269 AC XY: 19AN XY: 705124
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152178Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74342
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 03, 2022 | The c.702C>G (p.N234K) alteration is located in exon 9 (coding exon 8) of the ITPK1 gene. This alteration results from a C to G substitution at nucleotide position 702, causing the asparagine (N) at amino acid position 234 to be replaced by a lysine (K). 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