18-63901805-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_002575.3(SERPINB2):c.601G>A(p.Ala201Thr) variant causes a missense change. The variant allele was found at a frequency of 0.00000125 in 1,600,964 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002575.3 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 |
---|---|---|---|---|---|---|---|---|
SERPINB2 | NM_002575.3 | c.601G>A | p.Ala201Thr | missense_variant | Exon 6 of 8 | ENST00000299502.9 | NP_002566.1 | |
SERPINB2 | NM_001143818.2 | c.601G>A | p.Ala201Thr | missense_variant | Exon 7 of 9 | NP_001137290.1 | ||
SERPINB2 | XM_024451192.2 | c.601G>A | p.Ala201Thr | missense_variant | Exon 6 of 8 | XP_024306960.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SERPINB2 | ENST00000299502.9 | c.601G>A | p.Ala201Thr | missense_variant | Exon 6 of 8 | 1 | NM_002575.3 | ENSP00000299502.4 | ||
ENSG00000289724 | ENST00000397996.6 | c.229G>A | p.Ala77Thr | missense_variant | Exon 3 of 8 | 5 | ENSP00000381082.2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152160Hom.: 0 Cov.: 32
GnomAD4 exome AF: 6.90e-7 AC: 1AN: 1448804Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 720482
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152160Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74332
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.601G>A (p.A201T) alteration is located in exon 7 (coding exon 5) of the SERPINB2 gene. This alteration results from a G to A substitution at nucleotide position 601, causing the alanine (A) at amino acid position 201 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