15-45135179-C-T
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_175940.3(DUOX1):c.383C>T(p.Pro128Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000372 in 1,613,796 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_175940.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DUOX1 | ENST00000389037.7 | c.383C>T | p.Pro128Leu | missense_variant | Exon 5 of 34 | 1 | NM_175940.3 | ENSP00000373689.3 | ||
DUOX1 | ENST00000321429.8 | c.383C>T | p.Pro128Leu | missense_variant | Exon 6 of 35 | 1 | ENSP00000317997.4 | |||
DUOX1 | ENST00000561220.6 | n.383C>T | non_coding_transcript_exon_variant | Exon 5 of 33 | 5 | ENSP00000452623.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152248Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461548Hom.: 0 Cov.: 32 AF XY: 0.00000413 AC XY: 3AN XY: 727102
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152248Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74380
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.383C>T (p.P128L) alteration is located in exon 6 (coding exon 4) of the DUOX1 gene. This alteration results from a C to T substitution at nucleotide position 383, causing the proline (P) at amino acid position 128 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