rs7753826

Variant names:

• chr6-26042011-T-A
• rs7753826

Your query was ambiguous. Multiple possible variants found:

• chr6-26042011-T-A
• chr6-26042011-T-C
• chr6-26042011-T-G

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 0.203 in 151,974 control chromosomes in the GnomAD database, including 3,694 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 0.20 (3694 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 2.01
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.535 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: 0.203 AC: 30885 AN: 151856 Hom.: 3693 Cov.: 31

Gnomad AFR AF: 0.145

Gnomad AMI AF: 0.114

Gnomad AMR AF: 0.280

Gnomad ASJ AF: 0.194

Gnomad EAS AF: 0.553

Gnomad SAS AF: 0.300

Gnomad FIN AF: 0.172

Gnomad MID AF: 0.212

Gnomad NFE AF: 0.194

Gnomad OTH AF: 0.238

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

GnomAD4 genome AF: 0.203 AC: 30897 AN: 151974 Hom.: 3694 Cov.: 31 AF XY: 0.209 AC XY: 15523 AN XY: 74292

African (AFR) AF: 0.145 AC: 5992 AN: 41442

American (AMR) AF: 0.281 AC: 4293 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.194 AC: 674 AN: 3470

East Asian (EAS) AF: 0.552 AC: 2843 AN: 5148

South Asian (SAS) AF: 0.299 AC: 1438 AN: 4816

European-Finnish (FIN) AF: 0.172 AC: 1821 AN: 10560

Middle Eastern (MID) AF: 0.207 AC: 61 AN: 294

European-Non Finnish (NFE) AF: 0.194 AC: 13168 AN: 67948

Other (OTH) AF: 0.238 AC: 503 AN: 2110

Alfa AF: 0.106 Hom.: 154

Bravo AF: 0.209

Asia WGS AF: 0.382 AC: 1326 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	3.1
DANN	Benign	0.48
PhyloP100		2.0

Splicing

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

Other links and lift over

dbSNP: rs7753826; hg19: chr6-26042239;