rs983085

Variant names:

• chr17-71215920-A-G
• rs983085

Your query was ambiguous. Multiple possible variants found:

• chr17-71215920-A-G
• chr17-71215920-A-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.515 in 152,020 control chromosomes in the GnomAD database, including 21,581 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 0.51 (21581 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.218
• Publications: 8 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.715 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: 0.515 AC: 78160 AN: 151902 Hom.: 21550 Cov.: 32

Gnomad AFR AF: 0.722

Gnomad AMI AF: 0.386

Gnomad AMR AF: 0.433

Gnomad ASJ AF: 0.320

Gnomad EAS AF: 0.361

Gnomad SAS AF: 0.275

Gnomad FIN AF: 0.348

Gnomad MID AF: 0.344

Gnomad NFE AF: 0.475

Gnomad OTH AF: 0.475

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

GnomAD4 genome AF: 0.515 AC: 78235 AN: 152020 Hom.: 21581 Cov.: 32 AF XY: 0.502 AC XY: 37306 AN XY: 74292

African (AFR) AF: 0.722 AC: 29953 AN: 41486

American (AMR) AF: 0.433 AC: 6615 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.320 AC: 1108 AN: 3464

East Asian (EAS) AF: 0.361 AC: 1865 AN: 5170

South Asian (SAS) AF: 0.275 AC: 1324 AN: 4816

European-Finnish (FIN) AF: 0.348 AC: 3683 AN: 10574

Middle Eastern (MID) AF: 0.357 AC: 105 AN: 294

European-Non Finnish (NFE) AF: 0.475 AC: 32242 AN: 67918

Other (OTH) AF: 0.470 AC: 989 AN: 2106

Alfa AF: 0.462 Hom.: 30412

Bravo AF: 0.534

Asia WGS AF: 0.346 AC: 1207 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	7.4
DANN	Benign	0.78
PhyloP100		0.22

Splicing

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

Other links and lift over

dbSNP: rs983085; hg19: chr17-69212061;