rs1395268
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001370475.1(SERPINB11):āc.152A>Cā(p.Glu51Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.832 in 1,611,812 control chromosomes in the GnomAD database, including 559,213 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/16 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_001370475.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SERPINB11 | NM_001370475.1 | c.152A>C | p.Glu51Ala | missense_variant | 2/8 | ENST00000544088.6 | |
SERPINB11 | NM_080475.5 | c.152A>C | p.Glu51Ala | missense_variant | 3/9 | ||
SERPINB11 | NM_001291278.2 | c.152A>C | p.Glu51Ala | missense_variant | 2/6 | ||
SERPINB11 | NM_001291279.2 | c.-256A>C | 5_prime_UTR_variant | 2/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SERPINB11 | ENST00000544088.6 | c.152A>C | p.Glu51Ala | missense_variant | 2/8 | 2 | NM_001370475.1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.822 AC: 124890AN: 152016Hom.: 51354 Cov.: 32
GnomAD3 exomes AF: 0.836 AC: 206837AN: 247268Hom.: 86732 AF XY: 0.833 AC XY: 111818AN XY: 134184
GnomAD4 exome AF: 0.834 AC: 1216830AN: 1459678Hom.: 507820 Cov.: 42 AF XY: 0.833 AC XY: 604661AN XY: 726134
GnomAD4 genome ? AF: 0.822 AC: 124987AN: 152134Hom.: 51393 Cov.: 32 AF XY: 0.821 AC XY: 61094AN XY: 74370
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at