17-30785948-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_015986.4(CRLF3):c.1043G>A(p.Arg348Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000087 in 1,608,490 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015986.4 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 |
---|---|---|---|---|---|---|---|---|
CRLF3 | NM_015986.4 | c.1043G>A | p.Arg348Gln | missense_variant | Exon 7 of 8 | ENST00000324238.7 | NP_057070.3 | |
CRLF3 | NR_073118.2 | n.876G>A | non_coding_transcript_exon_variant | Exon 6 of 7 | ||||
SUZ12P1 | NR_144394.1 | n.843+1056C>T | intron_variant | Intron 7 of 8 | ||||
SUZ12P1 | NR_144395.1 | n.955+1056C>T | intron_variant | Intron 9 of 9 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152122Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251224Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135780
GnomAD4 exome AF: 0.00000824 AC: 12AN: 1456368Hom.: 0 Cov.: 28 AF XY: 0.00000828 AC XY: 6AN XY: 724938
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152122Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74310
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1043G>A (p.R348Q) alteration is located in exon 7 (coding exon 7) of the CRLF3 gene. This alteration results from a G to A substitution at nucleotide position 1043, causing the arginine (R) at amino acid position 348 to be replaced by a glutamine (Q). 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