18-63935144-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005024.3(SERPINB10):c.1096C>T(p.Pro366Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000116 in 1,461,184 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_005024.3 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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SERPINB10 | NM_005024.3 | c.1096C>T | p.Pro366Ser | missense_variant | 8/8 | ENST00000238508.8 | NP_005015.1 | |
SERPINB10 | XM_011526027.2 | c.1096C>T | p.Pro366Ser | missense_variant | 9/9 | XP_011524329.1 | ||
SERPINB10 | XM_017025793.2 | c.1012C>T | p.Pro338Ser | missense_variant | 8/8 | XP_016881282.1 | ||
SERPINB10 | XM_011526028.1 | c.709C>T | p.Pro237Ser | missense_variant | 6/6 | XP_011524330.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SERPINB10 | ENST00000238508.8 | c.1096C>T | p.Pro366Ser | missense_variant | 8/8 | 1 | NM_005024.3 | ENSP00000238508.3 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 250872Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135632
GnomAD4 exome AF: 0.0000116 AC: 17AN: 1461184Hom.: 0 Cov.: 31 AF XY: 0.00000688 AC XY: 5AN XY: 726920
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 25, 2024 | The c.1096C>T (p.P366S) alteration is located in exon 7 (coding exon 7) of the SERPINB10 gene. This alteration results from a C to T substitution at nucleotide position 1096, causing the proline (P) at amino acid position 366 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