7-65861834-A-G

Variant names:

• chr7-65861834-A-G
• rs11763147

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 0.506 in 151,948 control chromosomes in the GnomAD database, including 20,640 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 0.51 (20640 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.885
• Publications: 32 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.787 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: 0.506 AC: 76885 AN: 151830 Hom.: 20628 Cov.: 31

Gnomad AFR AF: 0.336

Gnomad AMI AF: 0.627

Gnomad AMR AF: 0.523

Gnomad ASJ AF: 0.618

Gnomad EAS AF: 0.807

Gnomad SAS AF: 0.640

Gnomad FIN AF: 0.612

Gnomad MID AF: 0.657

Gnomad NFE AF: 0.549

Gnomad OTH AF: 0.517

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

GnomAD4 genome AF: 0.506 AC: 76931 AN: 151948 Hom.: 20640 Cov.: 31 AF XY: 0.512 AC XY: 38008 AN XY: 74238

African (AFR) AF: 0.337 AC: 13951 AN: 41458

American (AMR) AF: 0.523 AC: 7975 AN: 15236

Ashkenazi Jewish (ASJ) AF: 0.618 AC: 2139 AN: 3462

East Asian (EAS) AF: 0.807 AC: 4177 AN: 5174

South Asian (SAS) AF: 0.639 AC: 3079 AN: 4816

European-Finnish (FIN) AF: 0.612 AC: 6445 AN: 10538

Middle Eastern (MID) AF: 0.655 AC: 190 AN: 290

European-Non Finnish (NFE) AF: 0.549 AC: 37307 AN: 67958

Other (OTH) AF: 0.521 AC: 1097 AN: 2106

Alfa AF: 0.546 Hom.: 92628

Bravo AF: 0.495

Asia WGS AF: 0.701 AC: 2439 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	5.1
DANN	Benign	0.53
PhyloP100		-0.89

Splicing

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

Other links and lift over

dbSNP: rs11763147; hg19: chr7-65326821;