rs6098
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_002575.3(SERPINB2):c.358A>G(p.Asn120Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.244 in 1,611,998 control chromosomes in the GnomAD database, including 51,138 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_002575.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SERPINB2 | NM_002575.3 | c.358A>G | p.Asn120Asp | missense_variant | 4/8 | ENST00000299502.9 | |
SERPINB2 | NM_001143818.2 | c.358A>G | p.Asn120Asp | missense_variant | 5/9 | ||
SERPINB2 | XM_024451192.2 | c.358A>G | p.Asn120Asp | missense_variant | 4/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SERPINB2 | ENST00000299502.9 | c.358A>G | p.Asn120Asp | missense_variant | 4/8 | 1 | NM_002575.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.286 AC: 43494AN: 151964Hom.: 6820 Cov.: 32
GnomAD3 exomes AF: 0.284 AC: 71089AN: 250042Hom.: 11396 AF XY: 0.276 AC XY: 37288AN XY: 135198
GnomAD4 exome AF: 0.239 AC: 349163AN: 1459916Hom.: 44297 Cov.: 32 AF XY: 0.240 AC XY: 173944AN XY: 726276
GnomAD4 genome ? AF: 0.286 AC: 43550AN: 152082Hom.: 6841 Cov.: 32 AF XY: 0.290 AC XY: 21525AN XY: 74326
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at