rs312726

Variant names:

• chr17-70292187-C-A
• rs312726

Your query was ambiguous. Multiple possible variants found:

• chr17-70292187-C-A
• chr17-70292187-C-G
• chr17-70292187-C-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 0.763 in 151,936 control chromosomes in the GnomAD database, including 44,517 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 0.76 (44517 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.313

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.805 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: 0.763 AC: 115838 AN: 151818 Hom.: 44479 Cov.: 31

Gnomad AFR AF: 0.801

Gnomad AMI AF: 0.728

Gnomad AMR AF: 0.703

Gnomad ASJ AF: 0.692

Gnomad EAS AF: 0.530

Gnomad SAS AF: 0.826

Gnomad FIN AF: 0.836

Gnomad MID AF: 0.699

Gnomad NFE AF: 0.760

Gnomad OTH AF: 0.764

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

GnomAD4 genome AF: 0.763 AC: 115926 AN: 151936 Hom.: 44517 Cov.: 31 AF XY: 0.764 AC XY: 56763 AN XY: 74254

Gnomad4 AFR AF: 0.801

Gnomad4 AMR AF: 0.702

Gnomad4 ASJ AF: 0.692

Gnomad4 EAS AF: 0.529

Gnomad4 SAS AF: 0.826

Gnomad4 FIN AF: 0.836

Gnomad4 NFE AF: 0.760

Gnomad4 OTH AF: 0.764

Alfa AF: 0.756 Hom.: 17066

Bravo AF: 0.748

Asia WGS AF: 0.694 AC: 2413 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	1.3
DANN	Benign	0.34

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs312726; hg19: chr17-68288328;