rs7761443

Variant names:

• chr6-114617933-A-C
• rs7761443

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 0.12 in 152,034 control chromosomes in the GnomAD database, including 1,076 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 0.12 (1076 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.210
• Publications: 0 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.122 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: 0.120 AC: 18161 AN: 151916 Hom.: 1075 Cov.: 32

Gnomad AFR AF: 0.119

Gnomad AMI AF: 0.118

Gnomad AMR AF: 0.0871

Gnomad ASJ AF: 0.146

Gnomad EAS AF: 0.0898

Gnomad SAS AF: 0.113

Gnomad FIN AF: 0.153

Gnomad MID AF: 0.0728

Gnomad NFE AF: 0.124

Gnomad OTH AF: 0.114

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

GnomAD4 genome AF: 0.120 AC: 18180 AN: 152034 Hom.: 1076 Cov.: 32 AF XY: 0.120 AC XY: 8928 AN XY: 74294

African (AFR) AF: 0.119 AC: 4938 AN: 41480

American (AMR) AF: 0.0869 AC: 1325 AN: 15250

Ashkenazi Jewish (ASJ) AF: 0.146 AC: 507 AN: 3470

East Asian (EAS) AF: 0.0898 AC: 464 AN: 5168

South Asian (SAS) AF: 0.114 AC: 549 AN: 4810

European-Finnish (FIN) AF: 0.153 AC: 1612 AN: 10556

Middle Eastern (MID) AF: 0.0714 AC: 21 AN: 294

European-Non Finnish (NFE) AF: 0.124 AC: 8420 AN: 67986

Other (OTH) AF: 0.112 AC: 236 AN: 2108

Alfa AF: 0.126 Hom.: 650

Bravo AF: 0.114

Asia WGS AF: 0.0980 AC: 340 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	1.2
DANN	Benign	0.72
PhyloP100		-0.21

Splicing

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

Other links and lift over

dbSNP: rs7761443; hg19: chr6-114939097;