chr20-18744206-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_080820.6(DTD1):c.584C>T(p.Ala195Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_080820.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DTD1 | ENST00000377452.4 | c.584C>T | p.Ala195Val | missense_variant | Exon 5 of 6 | 1 | NM_080820.6 | ENSP00000366672.4 | ||
ENSG00000284776 | ENST00000618693.4 | c.659C>T | p.Ala220Val | missense_variant | Exon 5 of 5 | 5 | ENSP00000482916.1 | |||
DTD1 | ENST00000647441.1 | n.*247C>T | non_coding_transcript_exon_variant | Exon 6 of 7 | ENSP00000493969.1 | |||||
DTD1 | ENST00000647441.1 | n.*247C>T | 3_prime_UTR_variant | Exon 6 of 7 | ENSP00000493969.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000797 AC: 2AN: 250794Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135608
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000205 AC: 3AN: 1459920Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 726264
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.584C>T (p.A195V) alteration is located in exon 5 (coding exon 5) of the DTD1 gene. This alteration results from a C to T substitution at nucleotide position 584, causing the alanine (A) at amino acid position 195 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