rs176248

Variant names:

• chr6-32998165-G-A
• rs176248

Your query was ambiguous. Multiple possible variants found:

• chr6-32998165-G-A
• chr6-32998165-G-C
• chr6-32998165-G-T

Variant summary

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

The variant allele was found at a frequency of 0.348 in 151,936 control chromosomes in the GnomAD database, including 11,078 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 0.35 (11078 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.38

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.585 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

Frequencies

GnomAD3 genomes AF: 0.348 AC: 52821 AN: 151818 Hom.: 11071 Cov.: 31

Gnomad AFR AF: 0.592

Gnomad AMI AF: 0.221

Gnomad AMR AF: 0.264

Gnomad ASJ AF: 0.256

Gnomad EAS AF: 0.179

Gnomad SAS AF: 0.170

Gnomad FIN AF: 0.236

Gnomad MID AF: 0.234

Gnomad NFE AF: 0.269

Gnomad OTH AF: 0.343

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.348 AC: 52870 AN: 151936 Hom.: 11078 Cov.: 31 AF XY: 0.336 AC XY: 24961 AN XY: 74254

Gnomad4 AFR AF: 0.591

Gnomad4 AMR AF: 0.264

Gnomad4 ASJ AF: 0.256

Gnomad4 EAS AF: 0.179

Gnomad4 SAS AF: 0.170

Gnomad4 FIN AF: 0.236

Gnomad4 NFE AF: 0.269

Gnomad4 OTH AF: 0.340

Alfa AF: 0.266 Hom.: 8313

Bravo AF: 0.361

Asia WGS AF: 0.249 AC: 866 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.22
DANN	Benign	0.12

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs176248; hg19: chr6-32965942;