7-812644-T-C

Variant names:

• chr7-812644-T-C
• rs11763218

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 0.718 in 151,948 control chromosomes in the GnomAD database, including 40,073 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 0.72 (40073 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -4.26
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.859 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: 0.718 AC: 109055 AN: 151830 Hom.: 40024 Cov.: 30

Gnomad AFR AF: 0.867

Gnomad AMI AF: 0.768

Gnomad AMR AF: 0.660

Gnomad ASJ AF: 0.615

Gnomad EAS AF: 0.835

Gnomad SAS AF: 0.567

Gnomad FIN AF: 0.753

Gnomad MID AF: 0.699

Gnomad NFE AF: 0.643

Gnomad OTH AF: 0.699

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

GnomAD4 genome AF: 0.718 AC: 109168 AN: 151948 Hom.: 40073 Cov.: 30 AF XY: 0.721 AC XY: 53518 AN XY: 74278

African (AFR) AF: 0.867 AC: 35956 AN: 41476

American (AMR) AF: 0.660 AC: 10054 AN: 15226

Ashkenazi Jewish (ASJ) AF: 0.615 AC: 2130 AN: 3466

East Asian (EAS) AF: 0.835 AC: 4300 AN: 5152

South Asian (SAS) AF: 0.566 AC: 2720 AN: 4806

European-Finnish (FIN) AF: 0.753 AC: 7950 AN: 10560

Middle Eastern (MID) AF: 0.707 AC: 208 AN: 294

European-Non Finnish (NFE) AF: 0.643 AC: 43664 AN: 67944

Other (OTH) AF: 0.703 AC: 1487 AN: 2114

Alfa AF: 0.687 Hom.: 4249

Bravo AF: 0.721

Asia WGS AF: 0.751 AC: 2612 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.43
DANN	Benign	0.16
PhyloP100		-4.3

Splicing

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

Other links and lift over

dbSNP: rs11763218; hg19: chr7-852281;