20-56398982-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 1P and 4B. PP3BS2
The NM_001324.3(CSTF1):c.661C>T(p.Arg221Cys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000249 in 1,607,600 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001324.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CSTF1 | NM_001324.3 | c.661C>T | p.Arg221Cys | missense_variant | Exon 5 of 6 | ENST00000217109.9 | NP_001315.1 | |
CSTF1 | NM_001033521.2 | c.661C>T | p.Arg221Cys | missense_variant | Exon 5 of 6 | NP_001028693.1 | ||
CSTF1 | NM_001033522.2 | c.661C>T | p.Arg221Cys | missense_variant | Exon 5 of 6 | NP_001028694.1 | ||
CSTF1 | XM_011528600.2 | c.661C>T | p.Arg221Cys | missense_variant | Exon 5 of 6 | XP_011526902.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152188Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000162 AC: 4AN: 247656Hom.: 0 AF XY: 0.0000150 AC XY: 2AN XY: 133696
GnomAD4 exome AF: 0.0000268 AC: 39AN: 1455412Hom.: 0 Cov.: 32 AF XY: 0.0000360 AC XY: 26AN XY: 723164
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152188Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74356
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.661C>T (p.R221C) alteration is located in exon 5 (coding exon 4) of the CSTF1 gene. This alteration results from a C to T substitution at nucleotide position 661, causing the arginine (R) at amino acid position 221 to be replaced by a cysteine (C). 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