6-31732367-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001288.6(CLIC1):c.414G>C(p.Lys138Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000441 in 1,563,778 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001288.6 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CLIC1 | NM_001288.6 | c.414G>C | p.Lys138Asn | missense_variant | Exon 5 of 6 | ENST00000375784.8 | NP_001279.2 | |
CLIC1 | NM_001287593.1 | c.414G>C | p.Lys138Asn | missense_variant | Exon 6 of 7 | NP_001274522.1 | ||
CLIC1 | NM_001287594.3 | c.414G>C | p.Lys138Asn | missense_variant | Exon 6 of 7 | NP_001274523.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152170Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000328 AC: 7AN: 213110Hom.: 0 AF XY: 0.0000345 AC XY: 4AN XY: 115834
GnomAD4 exome AF: 0.0000432 AC: 61AN: 1411490Hom.: 1 Cov.: 31 AF XY: 0.0000371 AC XY: 26AN XY: 700882
GnomAD4 genome AF: 0.0000525 AC: 8AN: 152288Hom.: 0 Cov.: 31 AF XY: 0.0000134 AC XY: 1AN XY: 74474
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.414G>C (p.K138N) alteration is located in exon 5 (coding exon 5) of the CLIC1 gene. This alteration results from a G to C substitution at nucleotide position 414, causing the lysine (K) at amino acid position 138 to be replaced by an asparagine (N). 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