1-84414819-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_021233.3(DNASE2B):āc.1037T>Cā(p.Ile346Thr) variant causes a missense change. The variant allele was found at a frequency of 0.00000186 in 1,614,014 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_021233.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNASE2B | NM_021233.3 | c.1037T>C | p.Ile346Thr | missense_variant | Exon 6 of 6 | ENST00000370665.4 | NP_067056.2 | |
DNASE2B | NM_058248.2 | c.413T>C | p.Ile138Thr | missense_variant | Exon 4 of 4 | NP_490649.1 | ||
DNASE2B | XM_047426625.1 | c.800T>C | p.Ile267Thr | missense_variant | Exon 5 of 5 | XP_047282581.1 | ||
DNASE2B | XM_011541878.3 | c.413T>C | p.Ile138Thr | missense_variant | Exon 3 of 3 | XP_011540180.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNASE2B | ENST00000370665.4 | c.1037T>C | p.Ile346Thr | missense_variant | Exon 6 of 6 | 1 | NM_021233.3 | ENSP00000359699.3 | ||
DNASE2B | ENST00000370662.3 | c.413T>C | p.Ile138Thr | missense_variant | Exon 4 of 4 | 1 | ENSP00000359696.3 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152180Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251192Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135776
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461834Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727210
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152180Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74340
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1037T>C (p.I346T) alteration is located in exon 6 (coding exon 6) of the DNASE2B gene. This alteration results from a T to C substitution at nucleotide position 1037, causing the isoleucine (I) at amino acid position 346 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