2-32532171-G-GTGTGTGTGTGTGTGTGT

Position:

• chr2-32532171-G-GTGTGTGTGTGTGTGTGT

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

The NM_016252.4(BIRC6):​c.12291+620_12291+621insTGTGTGTGTGTGTGTGT 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 0.0010 (0 hom., cov: 0)
  • Exomes 𝑓: 0.0016 (0 hom.)
  • Failed GnomAD Quality Control
• Consequence: BIRC6 NM_016252.4 intron
• 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]

MIR558 (HGNC:):

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
BIRC6	NM_016252.4	c.12291+620_12291+621insTGTGTGTGTGTGTGTGT		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+621insTGTGTGTGTGTGTGTGT		intron_variant		1	NM_016252.4	ENSP00000393596.2

Frequencies

GnomAD3 genomes AF: 0.00102 AC: 152 AN: 149198 Hom.: 0 Cov.: 0

Gnomad AFR AF: 0.000741

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.000600

Gnomad ASJ AF: 0.00204

Gnomad EAS AF: 0.000990

Gnomad SAS AF: 0.00215

Gnomad FIN AF: 0.0000983

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.00133

Gnomad OTH AF: 0.000488

GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00161 AC: 603 AN: 375688 Hom.: 0 Cov.: 0 AF XY: 0.00158 AC XY: 339 AN XY: 214130

Gnomad4 AFR exome AF: 0.00224

Gnomad4 AMR exome AF: 0.00179

Gnomad4 ASJ exome AF: 0.00399

Gnomad4 EAS exome AF: 0.000999

Gnomad4 SAS exome AF: 0.00182

Gnomad4 FIN exome AF: 0.00211

Gnomad4 NFE exome AF: 0.00131

Gnomad4 OTH exome AF: 0.00122

GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.00102 AC: 153 AN: 149316 Hom.: 0 Cov.: 0 AF XY: 0.00107 AC XY: 78 AN XY: 72872

Gnomad4 AFR AF: 0.000739

Gnomad4 AMR AF: 0.000666

Gnomad4 ASJ AF: 0.00204

Gnomad4 EAS AF: 0.000993

Gnomad4 SAS AF: 0.00215

Gnomad4 FIN AF: 0.0000983

Gnomad4 NFE AF: 0.00133

Gnomad4 OTH AF: 0.000483

Alfa AF: 0.00698 Hom.: 0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs35999329; hg19: chr2-32757238;