rs17431095

Variant names:

• chr15-50369252-A-G
• rs17431095
• ENST00000499624.3:n.13232A>G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000499624.3(GABPB1-AS1):​n.13232A>G variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.274 in 152,184 control chromosomes in the GnomAD database, including 7,156 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 0.27 (7155 hom., cov: 32)
  • Exomes 𝑓: 0.25 (1 hom.)
• Consequence: GABPB1-AS1 ENST00000499624.3 non_coding_transcript_exon
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.366

Genes affected

GABPB1-AS1 (HGNC:44157): (GABPB1 antisense RNA 1)

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.405 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
GABPB1-AS1	ENST00000499624.3	n.13232A>G		non_coding_transcript_exon_variant	Exon 2 of 2	1
GABPB1-AS1	ENST00000648591.1	n.449-1078A>G		intron_variant	Intron 2 of 2
GABPB1-AS1	ENST00000668321.1	n.87-1080A>G		intron_variant	Intron 1 of 1

Frequencies

GnomAD3 genomes AF: 0.274 AC: 41707 AN: 152046 Hom.: 7156 Cov.: 32

Gnomad AFR AF: 0.0729

Gnomad AMI AF: 0.358

Gnomad AMR AF: 0.275

Gnomad ASJ AF: 0.281

Gnomad EAS AF: 0.420

Gnomad SAS AF: 0.256

Gnomad FIN AF: 0.467

Gnomad MID AF: 0.258

Gnomad NFE AF: 0.355

Gnomad OTH AF: 0.305

GnomAD4 exome AF: 0.250 AC: 5 AN: 20 Hom.: 1 Cov.: 0 AF XY: 0.250 AC XY: 3 AN XY: 12

Gnomad4 NFE exome AF: 0.222

Gnomad4 OTH exome AF: 0.500

GnomAD4 genome AF: 0.274 AC: 41710 AN: 152164 Hom.: 7155 Cov.: 32 AF XY: 0.281 AC XY: 20933 AN XY: 74382

Gnomad4 AFR AF: 0.0727

Gnomad4 AMR AF: 0.275

Gnomad4 ASJ AF: 0.281

Gnomad4 EAS AF: 0.419

Gnomad4 SAS AF: 0.257

Gnomad4 FIN AF: 0.467

Gnomad4 NFE AF: 0.355

Gnomad4 OTH AF: 0.304

Alfa AF: 0.290 Hom.: 1665

Bravo AF: 0.249

Asia WGS AF: 0.297 AC: 1034 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	3.9
DANN	Benign	0.54

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs17431095; hg19: chr15-50661449;