rs206184

Variant names:

• chr7-20317762-C-T
• rs206184

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 0.626 in 152,008 control chromosomes in the GnomAD database, including 30,092 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 0.63 (30092 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.344
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.676 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: 0.626 AC: 95129 AN: 151890 Hom.: 30071 Cov.: 32

Gnomad AFR AF: 0.557

Gnomad AMI AF: 0.583

Gnomad AMR AF: 0.615

Gnomad ASJ AF: 0.646

Gnomad EAS AF: 0.506

Gnomad SAS AF: 0.630

Gnomad FIN AF: 0.612

Gnomad MID AF: 0.674

Gnomad NFE AF: 0.681

Gnomad OTH AF: 0.629

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

GnomAD4 genome AF: 0.626 AC: 95188 AN: 152008 Hom.: 30092 Cov.: 32 AF XY: 0.623 AC XY: 46277 AN XY: 74304

African (AFR) AF: 0.557 AC: 23058 AN: 41430

American (AMR) AF: 0.615 AC: 9400 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.646 AC: 2241 AN: 3470

East Asian (EAS) AF: 0.507 AC: 2619 AN: 5164

South Asian (SAS) AF: 0.627 AC: 3020 AN: 4814

European-Finnish (FIN) AF: 0.612 AC: 6468 AN: 10562

Middle Eastern (MID) AF: 0.687 AC: 202 AN: 294

European-Non Finnish (NFE) AF: 0.681 AC: 46314 AN: 67972

Other (OTH) AF: 0.632 AC: 1334 AN: 2110

Alfa AF: 0.662 Hom.: 99587

Bravo AF: 0.623

Asia WGS AF: 0.602 AC: 2094 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	2.0
DANN	Benign	0.53
PhyloP100		0.34

Splicing

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

Other links and lift over

dbSNP: rs206184; hg19: chr7-20357385;