9-4701940-A-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_017913.4(CDC37L1):c.824A>T(p.Gln275Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000151 in 1,592,056 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_017913.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152104Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000892 AC: 21AN: 235322Hom.: 0 AF XY: 0.0000863 AC XY: 11AN XY: 127498
GnomAD4 exome AF: 0.0000132 AC: 19AN: 1439952Hom.: 0 Cov.: 29 AF XY: 0.0000154 AC XY: 11AN XY: 716600
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152104Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74302
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.824A>T (p.Q275L) alteration is located in exon 7 (coding exon 6) of the CDC37L1 gene. This alteration results from a A to T substitution at nucleotide position 824, causing the glutamine (Q) at amino acid position 275 to be replaced by a leucine (L). 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