17-30793600-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015986.4(CRLF3):c.676G>C(p.Val226Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000118 in 1,613,954 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 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 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CRLF3 | ENST00000324238.7 | c.676G>C | p.Val226Leu | missense_variant | Exon 5 of 8 | 1 | NM_015986.4 | ENSP00000318804.6 | ||
CRLF3 | ENST00000578692.1 | n.*177G>C | non_coding_transcript_exon_variant | Exon 4 of 7 | 2 | ENSP00000462643.1 | ||||
CRLF3 | ENST00000578692.1 | n.*177G>C | 3_prime_UTR_variant | Exon 4 of 7 | 2 | ENSP00000462643.1 | ||||
CRLF3 | ENST00000577725.1 | n.393-7109G>C | intron_variant | Intron 1 of 2 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152134Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000278 AC: 7AN: 251466Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135908
GnomAD4 exome AF: 0.0000116 AC: 17AN: 1461820Hom.: 0 Cov.: 31 AF XY: 0.00000825 AC XY: 6AN XY: 727216
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152134Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74322
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.676G>C (p.V226L) alteration is located in exon 5 (coding exon 5) of the CRLF3 gene. This alteration results from a G to C substitution at nucleotide position 676, causing the valine (V) at amino acid position 226 to be replaced by a leucine (L). 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