17-2692027-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_001366661.1(CLUH):c.3631G>A(p.Gly1211Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000296 in 1,588,998 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 (★).
Frequency
Consequence
NM_001366661.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CLUH | NM_001366661.1 | c.3631G>A | p.Gly1211Ser | missense_variant | Exon 23 of 26 | ENST00000651024.2 | NP_001353590.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CLUH | ENST00000651024.2 | c.3631G>A | p.Gly1211Ser | missense_variant | Exon 23 of 26 | NM_001366661.1 | ENSP00000498679.1 |
Frequencies
GnomAD3 genomes AF: 0.0000266 AC: 4AN: 150566Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000179 AC: 4AN: 223418Hom.: 0 AF XY: 0.0000245 AC XY: 3AN XY: 122430
GnomAD4 exome AF: 0.0000299 AC: 43AN: 1438432Hom.: 0 Cov.: 33 AF XY: 0.0000336 AC XY: 24AN XY: 714654
GnomAD4 genome AF: 0.0000266 AC: 4AN: 150566Hom.: 0 Cov.: 31 AF XY: 0.0000272 AC XY: 2AN XY: 73422
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3514G>A (p.G1172S) alteration is located in exon 23 (coding exon 22) of the CLUH gene. This alteration results from a G to A substitution at nucleotide position 3514, causing the glycine (G) at amino acid position 1172 to be replaced by a serine (S). 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