rs7791986

Variant names:

• chr7-31117865-C-G
• rs7791986

Your query was ambiguous. Multiple possible variants found:

• chr7-31117865-C-G
• chr7-31117865-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 0.549 in 151,992 control chromosomes in the GnomAD database, including 23,737 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 0.55 (23737 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.30
• Publications: 2 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 (EAS) allele frequency at 95% confidence interval = 0.743 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: 0.549 AC: 83338 AN: 151874 Hom.: 23725 Cov.: 33

Gnomad AFR AF: 0.687

Gnomad AMI AF: 0.329

Gnomad AMR AF: 0.554

Gnomad ASJ AF: 0.534

Gnomad EAS AF: 0.765

Gnomad SAS AF: 0.588

Gnomad FIN AF: 0.496

Gnomad MID AF: 0.566

Gnomad NFE AF: 0.456

Gnomad OTH AF: 0.540

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

GnomAD4 genome AF: 0.549 AC: 83405 AN: 151992 Hom.: 23737 Cov.: 33 AF XY: 0.551 AC XY: 40901 AN XY: 74290

African (AFR) AF: 0.687 AC: 28486 AN: 41474

American (AMR) AF: 0.554 AC: 8474 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.534 AC: 1850 AN: 3466

East Asian (EAS) AF: 0.763 AC: 3958 AN: 5186

South Asian (SAS) AF: 0.587 AC: 2830 AN: 4820

European-Finnish (FIN) AF: 0.496 AC: 5221 AN: 10526

Middle Eastern (MID) AF: 0.565 AC: 166 AN: 294

European-Non Finnish (NFE) AF: 0.456 AC: 30973 AN: 67918

Other (OTH) AF: 0.544 AC: 1148 AN: 2110

Alfa AF: 0.348 Hom.: 816

Bravo AF: 0.560

Asia WGS AF: 0.693 AC: 2402 AN: 3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.1
DANN	Benign	0.48
PhyloP100		-1.3

Splicing

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

Other links and lift over

dbSNP: rs7791986; hg19: chr7-31157479;