chr17-36102943-G-A

Variant names:

• chr17-36102943-G-A
• rs10491121

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 0.328 in 152,050 control chromosomes in the GnomAD database, including 9,836 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 0.33 (9836 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.542
• Publications: 21 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 (EAS) allele frequency at 95% confidence interval = 0.493 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.328 AC: 49774 AN: 151932 Hom.: 9818 Cov.: 32

Gnomad AFR AF: 0.0941

Gnomad AMI AF: 0.380

Gnomad AMR AF: 0.457

Gnomad ASJ AF: 0.427

Gnomad EAS AF: 0.509

Gnomad SAS AF: 0.366

Gnomad FIN AF: 0.468

Gnomad MID AF: 0.446

Gnomad NFE AF: 0.395

Gnomad OTH AF: 0.375

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

GnomAD4 genome AF: 0.328 AC: 49801 AN: 152050 Hom.: 9836 Cov.: 32 AF XY: 0.333 AC XY: 24713 AN XY: 74314

African (AFR) AF: 0.0938 AC: 3891 AN: 41468

American (AMR) AF: 0.458 AC: 6998 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.427 AC: 1483 AN: 3470

East Asian (EAS) AF: 0.509 AC: 2632 AN: 5170

South Asian (SAS) AF: 0.367 AC: 1767 AN: 4818

European-Finnish (FIN) AF: 0.468 AC: 4935 AN: 10556

Middle Eastern (MID) AF: 0.442 AC: 129 AN: 292

European-Non Finnish (NFE) AF: 0.395 AC: 26818 AN: 67968

Other (OTH) AF: 0.380 AC: 801 AN: 2108

Alfa AF: 0.369 Hom.: 27151

Bravo AF: 0.320

Asia WGS AF: 0.395 AC: 1372 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	10
DANN	Benign	0.77
PhyloP100		0.54

Splicing

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

Other links and lift over

dbSNP: rs10491121; hg19: chr17-34430336;