rs1807714

Variant names:

• chr22-35395810-G-A
• rs1807714

Your query was ambiguous. Multiple possible variants found:

• chr22-35395810-G-A
• chr22-35395810-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 0.344 in 150,900 control chromosomes in the GnomAD database, including 9,281 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 0.34 (9281 hom., cov: 29)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.586
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.65 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: 0.344 AC: 51917 AN: 150780 Hom.: 9270 Cov.: 29

Gnomad AFR AF: 0.304

Gnomad AMI AF: 0.264

Gnomad AMR AF: 0.366

Gnomad ASJ AF: 0.349

Gnomad EAS AF: 0.670

Gnomad SAS AF: 0.445

Gnomad FIN AF: 0.367

Gnomad MID AF: 0.316

Gnomad NFE AF: 0.329

Gnomad OTH AF: 0.346

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

GnomAD4 genome AF: 0.344 AC: 51959 AN: 150900 Hom.: 9281 Cov.: 29 AF XY: 0.351 AC XY: 25866 AN XY: 73650

African (AFR) AF: 0.305 AC: 12520 AN: 41050

American (AMR) AF: 0.366 AC: 5535 AN: 15112

Ashkenazi Jewish (ASJ) AF: 0.349 AC: 1206 AN: 3460

East Asian (EAS) AF: 0.669 AC: 3407 AN: 5092

South Asian (SAS) AF: 0.443 AC: 2114 AN: 4774

European-Finnish (FIN) AF: 0.367 AC: 3827 AN: 10426

Middle Eastern (MID) AF: 0.305 AC: 86 AN: 282

European-Non Finnish (NFE) AF: 0.329 AC: 22302 AN: 67704

Other (OTH) AF: 0.345 AC: 722 AN: 2092

Alfa AF: 0.332 Hom.: 1082

Bravo AF: 0.345

Asia WGS AF: 0.543 AC: 1888 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.42
DANN	Benign	0.64
PhyloP100		-0.59

Splicing

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

Other links and lift over

dbSNP: rs1807714; hg19: chr22-35791803;