10-119798561-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014937.4(INPP5F):c.1067C>T(p.Ala356Val) variant causes a missense change. The variant allele was found at a frequency of 0.000122 in 1,612,076 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014937.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000592 AC: 9AN: 152038Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000359 AC: 9AN: 250614Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135450
GnomAD4 exome AF: 0.000129 AC: 188AN: 1459920Hom.: 0 Cov.: 29 AF XY: 0.000121 AC XY: 88AN XY: 726280
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152156Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74400
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1067C>T (p.A356V) alteration is located in exon 9 (coding exon 9) of the INPP5F gene. This alteration results from a C to T substitution at nucleotide position 1067, causing the alanine (A) at amino acid position 356 to be replaced by a valine (V). 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