2-32532171-G-GTGTGTGTGTGTGTGTGTGTGT
Position:
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_016252.4(BIRC6):c.12291+620_12291+621insTGTGTGTGTGTGTGTGTGTGT variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.00020 ( 0 hom., cov: 0)
Exomes 𝑓: 0.00014 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
BIRC6
NM_016252.4 intron
NM_016252.4 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.931
Genes affected
BIRC6 (HGNC:13516): (baculoviral IAP repeat containing 6) This gene encodes a protein with a BIR (baculoviral inhibition of apoptosis protein repeat) domain and a UBCc (ubiquitin-conjugating enzyme E2, catalytic) domain. This protein inhibits apoptosis by facilitating the degradation of apoptotic proteins by ubiquitination. [provided by RefSeq, Jul 2008]
Genome browser will be placed here
ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -4 ACMG points.
BS2
High AC in GnomAd4 at 30 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BIRC6 | NM_016252.4 | c.12291+620_12291+621insTGTGTGTGTGTGTGTGTGTGT | intron_variant | ENST00000421745.7 | NP_057336.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BIRC6 | ENST00000421745.7 | c.12291+620_12291+621insTGTGTGTGTGTGTGTGTGTGT | intron_variant | 1 | NM_016252.4 | ENSP00000393596.2 |
Frequencies
GnomAD3 genomes AF: 0.000201 AC: 30AN: 149328Hom.: 0 Cov.: 0
GnomAD3 genomes
AF:
AC:
30
AN:
149328
Hom.:
Cov.:
0
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
AF:
Gnomad OTH
AF:
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.000141 AC: 53AN: 376318Hom.: 0 Cov.: 0 AF XY: 0.000154 AC XY: 33AN XY: 214488
GnomAD4 exome
Data not reliable, filtered out with message: AS_VQSR
AF:
AC:
53
AN:
376318
Hom.:
Cov.:
0
AF XY:
AC XY:
33
AN XY:
214488
Gnomad4 AFR exome
AF:
Gnomad4 AMR exome
AF:
Gnomad4 ASJ exome
AF:
Gnomad4 EAS exome
AF:
Gnomad4 SAS exome
AF:
Gnomad4 FIN exome
AF:
Gnomad4 NFE exome
AF:
Gnomad4 OTH exome
AF:
GnomAD4 genome AF: 0.000201 AC: 30AN: 149328Hom.: 0 Cov.: 0 AF XY: 0.000206 AC XY: 15AN XY: 72796
GnomAD4 genome
AF:
AC:
30
AN:
149328
Hom.:
Cov.:
0
AF XY:
AC XY:
15
AN XY:
72796
Gnomad4 AFR
AF:
Gnomad4 AMR
AF:
Gnomad4 ASJ
AF:
Gnomad4 EAS
AF:
Gnomad4 SAS
AF:
Gnomad4 FIN
AF:
Gnomad4 NFE
AF:
Gnomad4 OTH
AF:
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at