15-45135594-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_175940.3(DUOX1):c.616C>A(p.Pro206Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000403 in 1,564,518 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 Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DUOX1 | ENST00000389037.7 | c.616C>A | p.Pro206Thr | missense_variant | Exon 6 of 34 | 1 | NM_175940.3 | ENSP00000373689.3 | ||
DUOX1 | ENST00000321429.8 | c.616C>A | p.Pro206Thr | missense_variant | Exon 7 of 35 | 1 | ENSP00000317997.4 | |||
DUOX1 | ENST00000561220.6 | n.616C>A | non_coding_transcript_exon_variant | Exon 6 of 33 | 5 | ENSP00000452623.1 |
Frequencies
GnomAD3 genomes AF: 0.0000328 AC: 5AN: 152236Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000118 AC: 2AN: 170178Hom.: 0 AF XY: 0.0000216 AC XY: 2AN XY: 92550
GnomAD4 exome AF: 0.0000411 AC: 58AN: 1412282Hom.: 0 Cov.: 34 AF XY: 0.0000387 AC XY: 27AN XY: 698250
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152236Hom.: 0 Cov.: 31 AF XY: 0.0000403 AC XY: 3AN XY: 74378
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.616C>A (p.P206T) alteration is located in exon 7 (coding exon 5) of the DUOX1 gene. This alteration results from a C to A substitution at nucleotide position 616, causing the proline (P) at amino acid position 206 to be replaced by a threonine (T). 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