9-21971149-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PM5
The NM_058195.4(CDKN2A):c.253C>A(p.Gln85Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000693 in 1,441,980 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Q85H) has been classified as Likely pathogenic.
Frequency
Consequence
NM_058195.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CDKN2A | ENST00000579755.2 | c.253C>A | p.Gln85Lys | missense_variant | Exon 2 of 3 | 1 | NM_058195.4 | ENSP00000462950.1 | ||
CDKN2A | ENST00000304494.10 | c.210C>A | p.Pro70Pro | synonymous_variant | Exon 2 of 3 | 1 | NM_000077.5 | ENSP00000307101.5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.93e-7 AC: 1AN: 1441980Hom.: 0 Cov.: 31 AF XY: 0.00000139 AC XY: 1AN XY: 717346
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.