rs755183791
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_080820.6(DTD1):āc.584C>Gā(p.Ala195Gly) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,459,920 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A195V) has been classified 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>G | p.Ala195Gly | missense_variant | Exon 5 of 6 | 1 | NM_080820.6 | ENSP00000366672.4 | ||
ENSG00000284776 | ENST00000618693.4 | c.659C>G | p.Ala220Gly | missense_variant | Exon 5 of 5 | 5 | ENSP00000482916.1 | |||
DTD1 | ENST00000647441.1 | n.*247C>G | non_coding_transcript_exon_variant | Exon 6 of 7 | ENSP00000493969.1 | |||||
DTD1 | ENST00000647441.1 | n.*247C>G | 3_prime_UTR_variant | Exon 6 of 7 | ENSP00000493969.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1459920Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 726264
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.