NM_000083.3:c.-16C>G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000083.3(CLCN1):c.-16C>G variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0029 in 1,455,416 control chromosomes in the GnomAD database, including 150 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_000083.3 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CLCN1 | ENST00000343257 | c.-16C>G | 5_prime_UTR_variant | Exon 1 of 23 | 1 | NM_000083.3 | ENSP00000339867.2 | |||
CLCN1 | ENST00000650516 | c.-16C>G | 5_prime_UTR_variant | Exon 1 of 23 | ENSP00000498052.2 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 682AN: 151748Hom.: 11 Cov.: 32 FAILED QC
GnomAD3 exomes AF: 0.0117 AC: 2877AN: 246616Hom.: 118 AF XY: 0.00918 AC XY: 1228AN XY: 133808
GnomAD4 exome AF: 0.00290 AC: 4216AN: 1455416Hom.: 150 Cov.: 31 AF XY: 0.00261 AC XY: 1887AN XY: 724196
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.00448 AC: 681AN: 151864Hom.: 11 Cov.: 32 AF XY: 0.00477 AC XY: 354AN XY: 74226
ClinVar
Submissions by phenotype
not specified Benign:1
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at