1-1312098-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_017871.6(INTS11):c.1657G>A(p.Val553Met) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000444 in 1,577,566 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_017871.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000331 AC: 5AN: 150906Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000140 AC: 2AN: 1426660Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 705828
GnomAD4 genome AF: 0.0000331 AC: 5AN: 150906Hom.: 0 Cov.: 32 AF XY: 0.0000136 AC XY: 1AN XY: 73588
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1657G>A (p.V553M) alteration is located in exon 16 (coding exon 16) of the CPSF3L gene. This alteration results from a G to A substitution at nucleotide position 1657, causing the valine (V) at amino acid position 553 to be replaced by a methionine (M). 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