4-36284291-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001170700.3(DTHD1):c.587C>T(p.Ser196Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001170700.3 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 |
---|---|---|---|---|---|---|---|---|---|---|
DTHD1 | ENST00000639862.2 | c.587C>T | p.Ser196Leu | missense_variant | Exon 2 of 10 | 5 | NM_001170700.3 | ENSP00000492542.1 | ||
DTHD1 | ENST00000507598.5 | c.332C>T | p.Ser111Leu | missense_variant | Exon 1 of 9 | 1 | ENSP00000424426.1 | |||
DTHD1 | ENST00000456874.3 | c.212C>T | p.Ser71Leu | missense_variant | Exon 1 of 9 | 1 | ENSP00000401597.2 | |||
DTHD1 | ENST00000357504.7 | c.17+2262C>T | intron_variant | Intron 1 of 8 | 2 | ENSP00000350103.3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.212C>T (p.S71L) alteration is located in exon 1 (coding exon 1) of the DTHD1 gene. This alteration results from a C to T substitution at nucleotide position 212, causing the serine (S) at amino acid position 71 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