rs181044510
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BS1BS2
The NM_001195132.2(CDKN2A):c.496C>T(p.His166Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000933 in 1,536,164 control chromosomes in the GnomAD database, including 14 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/15 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_001195132.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00216 AC: 329AN: 152220Hom.: 3 Cov.: 32
GnomAD3 exomes AF: 0.00138 AC: 186AN: 134580Hom.: 1 AF XY: 0.00124 AC XY: 91AN XY: 73302
GnomAD4 exome AF: 0.000798 AC: 1104AN: 1383826Hom.: 11 Cov.: 32 AF XY: 0.000773 AC XY: 528AN XY: 682858
GnomAD4 genome AF: 0.00217 AC: 330AN: 152338Hom.: 3 Cov.: 32 AF XY: 0.00337 AC XY: 251AN XY: 74490
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:2
This variant is associated with the following publications: (PMID: 24728327) -
CDKN2A: BP4, BS2 -
- -
Melanoma-pancreatic cancer syndrome Benign:1
- -
not specified Other:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at