rs7808659

Variant names:

• chr7-128930184-C-A
• rs7808659

Your query was ambiguous. Multiple possible variants found:

• chr7-128930184-C-A
• chr7-128930184-C-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 0.274 in 151,858 control chromosomes in the GnomAD database, including 6,123 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 0.27 (6123 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.336
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.313 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: 0.274 AC: 41566 AN: 151742 Hom.: 6122 Cov.: 32

Gnomad AFR AF: 0.196

Gnomad AMI AF: 0.395

Gnomad AMR AF: 0.216

Gnomad ASJ AF: 0.275

Gnomad EAS AF: 0.317

Gnomad SAS AF: 0.313

Gnomad FIN AF: 0.340

Gnomad MID AF: 0.269

Gnomad NFE AF: 0.317

Gnomad OTH AF: 0.253

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

GnomAD4 genome AF: 0.274 AC: 41582 AN: 151858 Hom.: 6123 Cov.: 32 AF XY: 0.276 AC XY: 20507 AN XY: 74212

African (AFR) AF: 0.196 AC: 8139 AN: 41428

American (AMR) AF: 0.215 AC: 3286 AN: 15258

Ashkenazi Jewish (ASJ) AF: 0.275 AC: 954 AN: 3468

East Asian (EAS) AF: 0.317 AC: 1633 AN: 5156

South Asian (SAS) AF: 0.313 AC: 1504 AN: 4812

European-Finnish (FIN) AF: 0.340 AC: 3583 AN: 10530

Middle Eastern (MID) AF: 0.274 AC: 80 AN: 292

European-Non Finnish (NFE) AF: 0.317 AC: 21512 AN: 67890

Other (OTH) AF: 0.252 AC: 532 AN: 2114

Alfa AF: 0.129 Hom.: 257

Bravo AF: 0.261

Asia WGS AF: 0.303 AC: 1052 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.67
DANN	Benign	0.40
PhyloP100		0.34

Splicing

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

Other links and lift over

dbSNP: rs7808659; hg19: chr7-128570238; COSMIC: COSV58236687;