chr22-19188083-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_007098.4(CLTCL1):c.4332G>C(p.Gln1444His) variant causes a missense change. The variant allele was found at a frequency of 0.0000157 in 1,461,628 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Q1444R) has been classified as Uncertain significance.
Frequency
Consequence
NM_007098.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CLTCL1 | NM_007098.4 | c.4332G>C | p.Gln1444His | missense_variant | 28/33 | ENST00000427926.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CLTCL1 | ENST00000427926.6 | c.4332G>C | p.Gln1444His | missense_variant | 28/33 | 1 | NM_007098.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.0000441 AC: 11AN: 249216Hom.: 0 AF XY: 0.0000444 AC XY: 6AN XY: 135202
GnomAD4 exome AF: 0.0000157 AC: 23AN: 1461628Hom.: 0 Cov.: 31 AF XY: 0.0000179 AC XY: 13AN XY: 727092
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 27, 2023 | The c.4332G>C (p.Q1444H) alteration is located in exon 28 (coding exon 28) of the CLTCL1 gene. This alteration results from a G to C substitution at nucleotide position 4332, causing the glutamine (Q) at amino acid position 1444 to be replaced by a histidine (H). 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