6-2833960-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_030666.4(SERPINB1):āc.788A>Cā(p.Asn263Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000211 in 1,613,354 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_030666.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SERPINB1 | NM_030666.4 | c.788A>C | p.Asn263Thr | missense_variant | 7/7 | ENST00000380739.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SERPINB1 | ENST00000380739.6 | c.788A>C | p.Asn263Thr | missense_variant | 7/7 | 1 | NM_030666.4 | P1 | |
SERPINB1 | ENST00000468511.5 | n.262-261A>C | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.000138 AC: 21AN: 152138Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000241 AC: 6AN: 249166Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135058
GnomAD4 exome AF: 0.00000890 AC: 13AN: 1461216Hom.: 0 Cov.: 32 AF XY: 0.00000413 AC XY: 3AN XY: 726892
GnomAD4 genome AF: 0.000138 AC: 21AN: 152138Hom.: 0 Cov.: 32 AF XY: 0.0000942 AC XY: 7AN XY: 74322
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 14, 2023 | The c.788A>C (p.N263T) alteration is located in exon 7 (coding exon 6) of the SERPINB1 gene. This alteration results from a A to C substitution at nucleotide position 788, causing the asparagine (N) at amino acid position 263 to be replaced by a threonine (T). 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