NM_017871.6:c.1646G>A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_017871.6(INTS11):c.1646G>A(p.Gly549Asp) variant causes a missense change. The variant allele was found at a frequency of 0.0000178 in 1,573,590 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: 0.0000136 AC: 2AN: 146928Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000394 AC: 8AN: 203048Hom.: 0 AF XY: 0.0000368 AC XY: 4AN XY: 108830
GnomAD4 exome AF: 0.0000182 AC: 26AN: 1426662Hom.: 0 Cov.: 33 AF XY: 0.0000184 AC XY: 13AN XY: 705830
GnomAD4 genome AF: 0.0000136 AC: 2AN: 146928Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 71058
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1646G>A (p.G549D) 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 1646, causing the glycine (G) at amino acid position 549 to be replaced by an aspartic acid (D). 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