chr1-1312290-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_017871.6(INTS11):c.1543G>A(p.Val515Met) variant causes a missense change. The variant allele was found at a frequency of 0.0000439 in 1,549,026 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: 0.0000531 AC: 8AN: 150644Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000192 AC: 3AN: 156624Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 82770
GnomAD4 exome AF: 0.0000429 AC: 60AN: 1398382Hom.: 0 Cov.: 36 AF XY: 0.0000478 AC XY: 33AN XY: 689808
GnomAD4 genome AF: 0.0000531 AC: 8AN: 150644Hom.: 0 Cov.: 33 AF XY: 0.0000410 AC XY: 3AN XY: 73236
ClinVar
Submissions by phenotype
Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities Pathogenic:1
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not specified Uncertain:1
The c.1543G>A (p.V515M) alteration is located in exon 15 (coding exon 15) of the CPSF3L gene. This alteration results from a G to A substitution at nucleotide position 1543, causing the valine (V) at amino acid position 515 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