rs6501455

Variant names:

• chr17-71205670-A-G
• rs6501455

Your query was ambiguous. Multiple possible variants found:

• chr17-71205670-A-G
• chr17-71205670-A-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 0.394 in 152,052 control chromosomes in the GnomAD database, including 12,366 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 0.39 (12366 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0190

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.474 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: 0.395 AC: 59952 AN: 151934 Hom.: 12359 Cov.: 31

Gnomad AFR AF: 0.294

Gnomad AMI AF: 0.394

Gnomad AMR AF: 0.381

Gnomad ASJ AF: 0.303

Gnomad EAS AF: 0.374

Gnomad SAS AF: 0.274

Gnomad FIN AF: 0.367

Gnomad MID AF: 0.320

Gnomad NFE AF: 0.479

Gnomad OTH AF: 0.383

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

GnomAD4 genome AF: 0.394 AC: 59984 AN: 152052 Hom.: 12366 Cov.: 31 AF XY: 0.386 AC XY: 28695 AN XY: 74334

Gnomad4 AFR AF: 0.294

Gnomad4 AMR AF: 0.381

Gnomad4 ASJ AF: 0.303

Gnomad4 EAS AF: 0.373

Gnomad4 SAS AF: 0.274

Gnomad4 FIN AF: 0.367

Gnomad4 NFE AF: 0.479

Gnomad4 OTH AF: 0.379

Alfa AF: 0.450 Hom.: 22098

Bravo AF: 0.395

Asia WGS AF: 0.322 AC: 1123 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	1.2
DANN	Benign	0.51

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6501455; hg19: chr17-69201811;