NM_017437.3:c.1019A>G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_017437.3(CPSF2):āc.1019A>Gā(p.Asp340Gly) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,860 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. D340A) has been classified as Uncertain significance.
Frequency
Consequence
NM_017437.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CPSF2 | NM_017437.3 | c.1019A>G | p.Asp340Gly | missense_variant | Exon 9 of 16 | ENST00000298875.9 | NP_059133.1 | |
CPSF2 | NM_001322272.2 | c.1019A>G | p.Asp340Gly | missense_variant | Exon 9 of 16 | NP_001309201.1 | ||
CPSF2 | NM_001322270.2 | c.1019A>G | p.Asp340Gly | missense_variant | Exon 9 of 15 | NP_001309199.1 | ||
CPSF2 | NM_001322271.2 | c.560A>G | p.Asp187Gly | missense_variant | Exon 8 of 15 | NP_001309200.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251410Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135872
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461860Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727228
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at