rs7803667

Variant names:

• chr7-114082577-T-A
• rs7803667

Your query was ambiguous. Multiple possible variants found:

• chr7-114082577-T-A
• chr7-114082577-T-C

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 0.257 in 152,080 control chromosomes in the GnomAD database, including 5,423 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 0.26 (5423 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.215
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.75).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.286 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: 0.257 AC: 39007 AN: 151962 Hom.: 5424 Cov.: 33

Gnomad AFR AF: 0.248

Gnomad AMI AF: 0.163

Gnomad AMR AF: 0.217

Gnomad ASJ AF: 0.353

Gnomad EAS AF: 0.0166

Gnomad SAS AF: 0.195

Gnomad FIN AF: 0.251

Gnomad MID AF: 0.380

Gnomad NFE AF: 0.290

Gnomad OTH AF: 0.278

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

GnomAD4 genome AF: 0.257 AC: 39010 AN: 152080 Hom.: 5423 Cov.: 33 AF XY: 0.254 AC XY: 18866 AN XY: 74328

African (AFR) AF: 0.248 AC: 10286 AN: 41472

American (AMR) AF: 0.217 AC: 3311 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.353 AC: 1225 AN: 3472

East Asian (EAS) AF: 0.0166 AC: 86 AN: 5172

South Asian (SAS) AF: 0.193 AC: 934 AN: 4830

European-Finnish (FIN) AF: 0.251 AC: 2645 AN: 10558

Middle Eastern (MID) AF: 0.374 AC: 110 AN: 294

European-Non Finnish (NFE) AF: 0.290 AC: 19681 AN: 67976

Other (OTH) AF: 0.277 AC: 584 AN: 2112

Alfa AF: 0.171 Hom.: 398

Bravo AF: 0.250

Asia WGS AF: 0.139 AC: 485 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.75
CADD	Benign	8.0
DANN	Benign	0.72
PhyloP100		0.21

Splicing

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

Other links and lift over

dbSNP: rs7803667; hg19: chr7-113722632;