6-31732273-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 6P and 2B. PM2PP3_StrongBP6_Moderate
The NM_001288.6(CLIC1):c.508G>A(p.Gly170Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000125 in 1,597,126 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 Likely benign (★).
Frequency
Consequence
NM_001288.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CLIC1 | NM_001288.6 | c.508G>A | p.Gly170Ser | missense_variant | Exon 5 of 6 | ENST00000375784.8 | NP_001279.2 | |
CLIC1 | NM_001287593.1 | c.508G>A | p.Gly170Ser | missense_variant | Exon 6 of 7 | NP_001274522.1 | ||
CLIC1 | NM_001287594.3 | c.508G>A | p.Gly170Ser | missense_variant | Exon 6 of 7 | NP_001274523.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152158Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000419 AC: 1AN: 238870Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 129342
GnomAD4 exome AF: 6.92e-7 AC: 1AN: 1444968Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 718492
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152158Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74320
ClinVar
Submissions by phenotype
not specified Benign:1
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at