rs7005198

Variant names:

• chr8-16988800-G-C
• rs7005198

Your query was ambiguous. Multiple possible variants found:

• chr8-16988800-G-C
• chr8-16988800-G-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 0.202 in 152,070 control chromosomes in the GnomAD database, including 3,526 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 0.20 (3526 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.365
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.429 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.202 AC: 30728 AN: 151952 Hom.: 3521 Cov.: 32

Gnomad AFR AF: 0.133

Gnomad AMI AF: 0.0844

Gnomad AMR AF: 0.215

Gnomad ASJ AF: 0.199

Gnomad EAS AF: 0.445

Gnomad SAS AF: 0.322

Gnomad FIN AF: 0.308

Gnomad MID AF: 0.218

Gnomad NFE AF: 0.200

Gnomad OTH AF: 0.209

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

GnomAD4 genome AF: 0.202 AC: 30748 AN: 152070 Hom.: 3526 Cov.: 32 AF XY: 0.211 AC XY: 15683 AN XY: 74312

African (AFR) AF: 0.133 AC: 5532 AN: 41528

American (AMR) AF: 0.215 AC: 3293 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.199 AC: 692 AN: 3470

East Asian (EAS) AF: 0.444 AC: 2290 AN: 5156

South Asian (SAS) AF: 0.322 AC: 1551 AN: 4812

European-Finnish (FIN) AF: 0.308 AC: 3246 AN: 10536

Middle Eastern (MID) AF: 0.224 AC: 66 AN: 294

European-Non Finnish (NFE) AF: 0.200 AC: 13562 AN: 67966

Other (OTH) AF: 0.208 AC: 439 AN: 2114

Alfa AF: 0.130 Hom.: 238

Bravo AF: 0.190

Asia WGS AF: 0.352 AC: 1223 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	1.8
DANN	Benign	0.30
PhyloP100		0.36

Splicing

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

Other links and lift over

dbSNP: rs7005198; hg19: chr8-16846309;