11-67365450-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_013246.3(CLCF1):āc.364C>Gā(p.Arg122Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,526 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_013246.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CLCF1 | NM_013246.3 | c.364C>G | p.Arg122Gly | missense_variant | 3/3 | ENST00000312438.8 | |
LOC100130987 | NR_024469.1 | n.424-22085G>C | intron_variant, non_coding_transcript_variant | ||||
CLCF1 | NM_001166212.2 | c.334C>G | p.Arg112Gly | missense_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CLCF1 | ENST00000312438.8 | c.364C>G | p.Arg122Gly | missense_variant | 3/3 | 1 | NM_013246.3 | P1 | |
CLCF1 | ENST00000533438.1 | c.334C>G | p.Arg112Gly | missense_variant | 3/3 | 2 | |||
RAD9A | ENST00000622583.4 | n.392-22085G>C | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000400 AC: 1AN: 250262Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135516
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461526Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727038
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at