16-81017343-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001100624.3(CENPN):c.235C>T(p.His79Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000244 in 1,597,616 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_001100624.3 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: 0.0000986 AC: 15AN: 152096Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000359 AC: 9AN: 250618Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135464
GnomAD4 exome AF: 0.0000166 AC: 24AN: 1445402Hom.: 0 Cov.: 26 AF XY: 0.0000111 AC XY: 8AN XY: 720154
GnomAD4 genome AF: 0.0000985 AC: 15AN: 152214Hom.: 0 Cov.: 33 AF XY: 0.0000672 AC XY: 5AN XY: 74426
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.235C>T (p.H79Y) alteration is located in exon 4 (coding exon 3) of the CENPN gene. This alteration results from a C to T substitution at nucleotide position 235, causing the histidine (H) at amino acid position 79 to be replaced by a tyrosine (Y). 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