18-63639714-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_002974.4(SERPINB4):c.532A>C(p.Asn178His) variant causes a missense change. The variant allele was found at a frequency of 0.00000496 in 1,612,014 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002974.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SERPINB4 | NM_002974.4 | c.532A>C | p.Asn178His | missense_variant | Exon 6 of 8 | ENST00000341074.10 | NP_002965.1 | |
SERPINB4 | NM_175041.2 | c.532A>C | p.Asn178His | missense_variant | Exon 6 of 8 | NP_778206.1 | ||
SERPINB4 | XM_011526138.2 | c.532A>C | p.Asn178His | missense_variant | Exon 6 of 8 | XP_011524440.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SERPINB4 | ENST00000341074.10 | c.532A>C | p.Asn178His | missense_variant | Exon 6 of 8 | 1 | NM_002974.4 | ENSP00000343445.5 | ||
SERPINB4 | ENST00000413673.5 | c.535A>C | p.Asn179His | missense_variant | Exon 5 of 7 | 1 | ENSP00000398645.1 | |||
SERPINB4 | ENST00000436264.1 | c.403A>C | p.Asn135His | missense_variant | Exon 5 of 6 | 5 | ENSP00000399796.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152104Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000797 AC: 2AN: 250844Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135582
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1459910Hom.: 0 Cov.: 30 AF XY: 0.00000551 AC XY: 4AN XY: 726358
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152104Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74306
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.532A>C (p.N178H) alteration is located in exon 6 (coding exon 5) of the SERPINB4 gene. This alteration results from a A to C substitution at nucleotide position 532, causing the asparagine (N) at amino acid position 178 to be replaced by a histidine (H). 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