9-22006018-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004936.4(CDKN2B):āc.386C>Gā(p.Ala129Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000689 in 1,451,234 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_004936.4 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 Cov.: 33
GnomAD3 exomes AF: 0.00000429 AC: 1AN: 233322Hom.: 0 AF XY: 0.00000776 AC XY: 1AN XY: 128894
GnomAD4 exome AF: 6.89e-7 AC: 1AN: 1451234Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 722364
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.386C>G (p.A129G) alteration is located in exon 2 (coding exon 2) of the CDKN2B gene. This alteration results from a C to G substitution at nucleotide position 386, causing the alanine (A) at amino acid position 129 to be replaced by a glycine (G). 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