17-2691667-T-C
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001366661.1(CLUH):c.3805A>G(p.Met1269Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000931 in 1,611,860 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict 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 -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CLUH | NM_001366661.1 | c.3805A>G | p.Met1269Val | missense_variant | Exon 25 of 26 | ENST00000651024.2 | NP_001353590.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CLUH | ENST00000651024.2 | c.3805A>G | p.Met1269Val | missense_variant | Exon 25 of 26 | NM_001366661.1 | ENSP00000498679.1 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151590Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000163 AC: 4AN: 244766Hom.: 0 AF XY: 0.00000749 AC XY: 1AN XY: 133566
GnomAD4 exome AF: 0.00000890 AC: 13AN: 1460150Hom.: 0 Cov.: 31 AF XY: 0.00000688 AC XY: 5AN XY: 726382
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151710Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74156
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3688A>G (p.M1230V) alteration is located in exon 25 (coding exon 24) of the CLUH gene. This alteration results from a A to G substitution at nucleotide position 3688, causing the methionine (M) at amino acid position 1230 to be replaced by a valine (V). 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