1-212078228-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_016448.4(DTL):c.1091C>T(p.Thr364Met) variant causes a missense change. The variant allele was found at a frequency of 0.0000167 in 1,612,086 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_016448.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DTL | ENST00000366991.5 | c.1091C>T | p.Thr364Met | missense_variant | Exon 12 of 15 | 1 | NM_016448.4 | ENSP00000355958.4 | ||
DTL | ENST00000542077.5 | c.965C>T | p.Thr322Met | missense_variant | Exon 11 of 14 | 2 | ENSP00000443870.1 | |||
DTL | ENST00000475419.5 | n.906C>T | non_coding_transcript_exon_variant | Exon 10 of 13 | 2 | |||||
DTL | ENST00000489149.1 | n.196C>T | non_coding_transcript_exon_variant | Exon 2 of 4 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152130Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000438 AC: 11AN: 250982Hom.: 0 AF XY: 0.0000590 AC XY: 8AN XY: 135682
GnomAD4 exome AF: 0.0000164 AC: 24AN: 1459956Hom.: 0 Cov.: 28 AF XY: 0.0000165 AC XY: 12AN XY: 726342
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152130Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74342
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1091C>T (p.T364M) alteration is located in exon 12 (coding exon 12) of the DTL gene. This alteration results from a C to T substitution at nucleotide position 1091, causing the threonine (T) at amino acid position 364 to be replaced by a methionine (M). 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