chr6-2891919-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004155.6(SERPINB9):c.637C>T(p.Arg213Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000124 in 1,612,954 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004155.6 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 |
---|---|---|---|---|---|---|---|---|
SERPINB9 | NM_004155.6 | c.637C>T | p.Arg213Cys | missense_variant | 6/7 | ENST00000380698.5 | NP_004146.1 | |
SERPINB9-AS1 | NR_110841.1 | n.224+7079G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SERPINB9 | ENST00000380698.5 | c.637C>T | p.Arg213Cys | missense_variant | 6/7 | 1 | NM_004155.6 | ENSP00000370074 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000659 AC: 1AN: 151780Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250350Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135594
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461174Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 726918
GnomAD4 genome AF: 0.00000659 AC: 1AN: 151780Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74114
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 06, 2023 | The c.637C>T (p.R213C) alteration is located in exon 6 (coding exon 5) of the SERPINB9 gene. This alteration results from a C to T substitution at nucleotide position 637, causing the arginine (R) at amino acid position 213 to be replaced by a cysteine (C). 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