18-63637975-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002974.4(SERPINB4):c.917A>G(p.Asn306Ser) variant causes a missense change. The variant allele was found at a frequency of 0.000236 in 1,613,694 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002974.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SERPINB4 | NM_002974.4 | c.917A>G | p.Asn306Ser | missense_variant | Exon 8 of 8 | ENST00000341074.10 | NP_002965.1 | |
SERPINB4 | NM_175041.2 | c.854A>G | p.Asn285Ser | missense_variant | Exon 8 of 8 | NP_778206.1 | ||
SERPINB4 | XM_011526138.2 | c.917A>G | p.Asn306Ser | missense_variant | Exon 8 of 8 | XP_011524440.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SERPINB4 | ENST00000341074.10 | c.917A>G | p.Asn306Ser | missense_variant | Exon 8 of 8 | 1 | NM_002974.4 | ENSP00000343445.5 | ||
SERPINB4 | ENST00000413673.5 | c.857A>G | p.Asn286Ser | missense_variant | Exon 7 of 7 | 1 | ENSP00000398645.1 |
Frequencies
GnomAD3 genomes AF: 0.000197 AC: 30AN: 152090Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000179 AC: 45AN: 251094Hom.: 0 AF XY: 0.000177 AC XY: 24AN XY: 135696
GnomAD4 exome AF: 0.000240 AC: 351AN: 1461486Hom.: 0 Cov.: 31 AF XY: 0.000242 AC XY: 176AN XY: 727054
GnomAD4 genome AF: 0.000197 AC: 30AN: 152208Hom.: 0 Cov.: 31 AF XY: 0.000107 AC XY: 8AN XY: 74420
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.917A>G (p.N306S) alteration is located in exon 8 (coding exon 7) of the SERPINB4 gene. This alteration results from a A to G substitution at nucleotide position 917, causing the asparagine (N) at amino acid position 306 to be replaced by a serine (S). 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