11-112064196-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001082619.2(PIH1D2):c.839C>T(p.Ala280Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000109 in 1,565,734 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/15 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001082619.2 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: 0.0000264 AC: 4AN: 151390Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000158 AC: 3AN: 189392Hom.: 0 AF XY: 0.00000986 AC XY: 1AN XY: 101382
GnomAD4 exome AF: 0.00000919 AC: 13AN: 1414344Hom.: 1 Cov.: 30 AF XY: 0.00000857 AC XY: 6AN XY: 699940
GnomAD4 genome AF: 0.0000264 AC: 4AN: 151390Hom.: 0 Cov.: 32 AF XY: 0.0000406 AC XY: 3AN XY: 73900
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 01, 2021 | The c.839C>T (p.A280V) alteration is located in exon 6 (coding exon 5) of the PIH1D2 gene. This alteration results from a C to T substitution at nucleotide position 839, causing the alanine (A) at amino acid position 280 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