rs6961611

Variant names:

• chr7-67961336-T-C
• rs6961611

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 0.0641 in 152,252 control chromosomes in the GnomAD database, including 481 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 0.064 (481 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.293
• Publications: 8 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.64).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.155 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: 0.0639 AC: 9715 AN: 152134 Hom.: 471 Cov.: 33

Gnomad AFR AF: 0.112

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0916

Gnomad ASJ AF: 0.0357

Gnomad EAS AF: 0.164

Gnomad SAS AF: 0.119

Gnomad FIN AF: 0.0430

Gnomad MID AF: 0.0823

Gnomad NFE AF: 0.0222

Gnomad OTH AF: 0.0554

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

GnomAD4 genome AF: 0.0641 AC: 9764 AN: 152252 Hom.: 481 Cov.: 33 AF XY: 0.0676 AC XY: 5032 AN XY: 74442

African (AFR) AF: 0.113 AC: 4693 AN: 41544

American (AMR) AF: 0.0918 AC: 1402 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.0357 AC: 124 AN: 3470

East Asian (EAS) AF: 0.164 AC: 849 AN: 5174

South Asian (SAS) AF: 0.119 AC: 572 AN: 4826

European-Finnish (FIN) AF: 0.0430 AC: 456 AN: 10610

Middle Eastern (MID) AF: 0.0884 AC: 26 AN: 294

European-Non Finnish (NFE) AF: 0.0222 AC: 1513 AN: 68026

Other (OTH) AF: 0.0610 AC: 129 AN: 2116

Alfa AF: 0.0383 Hom.: 791

Bravo AF: 0.0683

Asia WGS AF: 0.169 AC: 585 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.64
CADD	Benign	8.5
DANN	Benign	0.89
PhyloP100		0.29

Splicing

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

Other links and lift over

dbSNP: rs6961611; hg19: chr7-67426323;