17-2694186-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001366661.1(CLUH):c.3028G>A(p.Val1010Ile) variant causes a missense change. The variant allele was found at a frequency of 0.0000105 in 1,613,038 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V1010A) has been classified as Uncertain significance.
Frequency
Consequence
NM_001366661.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CLUH | NM_001366661.1 | c.3028G>A | p.Val1010Ile | missense_variant | Exon 18 of 26 | ENST00000651024.2 | NP_001353590.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CLUH | ENST00000651024.2 | c.3028G>A | p.Val1010Ile | missense_variant | Exon 18 of 26 | NM_001366661.1 | ENSP00000498679.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152206Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000203 AC: 5AN: 246680Hom.: 0 AF XY: 0.0000224 AC XY: 3AN XY: 134048
GnomAD4 exome AF: 0.0000110 AC: 16AN: 1460832Hom.: 0 Cov.: 32 AF XY: 0.0000110 AC XY: 8AN XY: 726648
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152206Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74366
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2911G>A (p.V971I) alteration is located in exon 18 (coding exon 17) of the CLUH gene. This alteration results from a G to A substitution at nucleotide position 2911, causing the valine (V) at amino acid position 971 to be replaced by an isoleucine (I). 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