rs2576092
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_207581.4(DUOXA2):c.554+6T>A variant causes a splice donor region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000658 in 152,004 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.
Frequency
Consequence
NM_207581.4 splice_donor_region, intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DUOXA2 | NM_207581.4 | c.554+6T>A | splice_donor_region_variant, intron_variant | ENST00000323030.6 | |||
DUOXA2 | XM_017022180.2 | c.605+6T>A | splice_donor_region_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DUOXA2 | ENST00000323030.6 | c.554+6T>A | splice_donor_region_variant, intron_variant | 1 | NM_207581.4 | P1 | |||
DUOXA2 | ENST00000491993.2 | c.*621+6T>A | splice_donor_region_variant, intron_variant, NMD_transcript_variant | 1 | |||||
DUOXA2 | ENST00000350243.10 | n.840T>A | non_coding_transcript_exon_variant | 4/5 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 152004Hom.: 0 Cov.: 34
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000205 AC: 3AN: 1460554Hom.: 0 Cov.: 52 AF XY: 0.00000413 AC XY: 3AN XY: 726562
GnomAD4 genome ? AF: 0.00000658 AC: 1AN: 152004Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 74240
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at