chr11-111974908-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001037954.4(DIXDC1):c.581C>T(p.Pro194Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000093 in 1,613,586 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001037954.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DIXDC1 | ENST00000440460.7 | c.581C>T | p.Pro194Leu | missense_variant | Exon 5 of 20 | 1 | NM_001037954.4 | ENSP00000394352.3 | ||
DIXDC1 | ENST00000529225.5 | c.578C>T | p.Pro193Leu | missense_variant | Exon 6 of 6 | 5 | ENSP00000434130.1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152100Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000821 AC: 12AN: 1461486Hom.: 0 Cov.: 30 AF XY: 0.0000110 AC XY: 8AN XY: 726986
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152100Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74306
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.581C>T (p.P194L) alteration is located in exon 5 (coding exon 5) of the DIXDC1 gene. This alteration results from a C to T substitution at nucleotide position 581, causing the proline (P) at amino acid position 194 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