rs9972960

Variant names:

• chr17-36092731-A-G
• rs9972960

Your query was ambiguous. Multiple possible variants found:

• chr17-36092731-A-G
• chr17-36092731-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 0.639 in 152,088 control chromosomes in the GnomAD database, including 31,215 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 0.64 (31215 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.24

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.801 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: 0.639 AC: 97143 AN: 151970 Hom.: 31181 Cov.: 33

Gnomad AFR AF: 0.606

Gnomad AMI AF: 0.727

Gnomad AMR AF: 0.701

Gnomad ASJ AF: 0.603

Gnomad EAS AF: 0.822

Gnomad SAS AF: 0.620

Gnomad FIN AF: 0.623

Gnomad MID AF: 0.672

Gnomad NFE AF: 0.636

Gnomad OTH AF: 0.656

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

GnomAD4 genome AF: 0.639 AC: 97222 AN: 152088 Hom.: 31215 Cov.: 33 AF XY: 0.638 AC XY: 47404 AN XY: 74346

Gnomad4 AFR AF: 0.605

Gnomad4 AMR AF: 0.701

Gnomad4 ASJ AF: 0.603

Gnomad4 EAS AF: 0.822

Gnomad4 SAS AF: 0.621

Gnomad4 FIN AF: 0.623

Gnomad4 NFE AF: 0.636

Gnomad4 OTH AF: 0.659

Alfa AF: 0.640 Hom.: 62379

Bravo AF: 0.650

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.43

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9972960; hg19: chr17-34420079;