rs714679

Variant names:

• chr11-44632114-G-A
• rs714679

Your query was ambiguous. Multiple possible variants found:

• chr11-44632114-G-A
• chr11-44632114-G-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 0.568 in 151,894 control chromosomes in the GnomAD database, including 24,662 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 0.57 (24662 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0170
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.637 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: 0.568 AC: 86220 AN: 151776 Hom.: 24642 Cov.: 31

Gnomad AFR AF: 0.561

Gnomad AMI AF: 0.627

Gnomad AMR AF: 0.647

Gnomad ASJ AF: 0.572

Gnomad EAS AF: 0.461

Gnomad SAS AF: 0.575

Gnomad FIN AF: 0.589

Gnomad MID AF: 0.497

Gnomad NFE AF: 0.559

Gnomad OTH AF: 0.560

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

GnomAD4 genome AF: 0.568 AC: 86289 AN: 151894 Hom.: 24662 Cov.: 31 AF XY: 0.568 AC XY: 42153 AN XY: 74194

African (AFR) AF: 0.560 AC: 23221 AN: 41430

American (AMR) AF: 0.647 AC: 9877 AN: 15258

Ashkenazi Jewish (ASJ) AF: 0.572 AC: 1982 AN: 3468

East Asian (EAS) AF: 0.461 AC: 2362 AN: 5124

South Asian (SAS) AF: 0.576 AC: 2770 AN: 4808

European-Finnish (FIN) AF: 0.589 AC: 6204 AN: 10540

Middle Eastern (MID) AF: 0.500 AC: 147 AN: 294

European-Non Finnish (NFE) AF: 0.559 AC: 37988 AN: 67966

Other (OTH) AF: 0.557 AC: 1167 AN: 2096

Alfa AF: 0.565 Hom.: 66332

Bravo AF: 0.571

Asia WGS AF: 0.547 AC: 1906 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	3.4
DANN	Benign	0.79
PhyloP100		-0.017

Splicing

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

Other links and lift over

dbSNP: rs714679; hg19: chr11-44653664;