18-63639677-A-G
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_002974.4(SERPINB4):c.569T>C(p.Phe190Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,459,094 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
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SERPINB4 | NM_002974.4 | c.569T>C | p.Phe190Ser | missense_variant | Exon 6 of 8 | ENST00000341074.10 | NP_002965.1 | |
SERPINB4 | NM_175041.2 | c.569T>C | p.Phe190Ser | missense_variant | Exon 6 of 8 | NP_778206.1 | ||
SERPINB4 | XM_011526138.2 | c.569T>C | p.Phe190Ser | 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.569T>C | p.Phe190Ser | missense_variant | Exon 6 of 8 | 1 | NM_002974.4 | ENSP00000343445.5 | ||
SERPINB4 | ENST00000413673.5 | c.572T>C | p.Phe191Ser | missense_variant | Exon 5 of 7 | 1 | ENSP00000398645.1 | |||
SERPINB4 | ENST00000436264.1 | c.440T>C | p.Phe147Ser | missense_variant | Exon 5 of 6 | 5 | ENSP00000399796.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459094Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 725998
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.569T>C (p.F190S) alteration is located in exon 6 (coding exon 5) of the SERPINB4 gene. This alteration results from a T to C substitution at nucleotide position 569, causing the phenylalanine (F) at amino acid position 190 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