rs11974306

Variant names:

• chr7-21517744-T-A
• rs11974306

Your query was ambiguous. Multiple possible variants found:

• chr7-21517744-T-A
• chr7-21517744-T-C
• chr7-21517744-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 0.617 in 152,076 control chromosomes in the GnomAD database, including 30,522 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 0.62 (30522 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.20
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.834 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: 0.616 AC: 93681 AN: 151958 Hom.: 30463 Cov.: 32

Gnomad AFR AF: 0.812

Gnomad AMI AF: 0.315

Gnomad AMR AF: 0.615

Gnomad ASJ AF: 0.564

Gnomad EAS AF: 0.855

Gnomad SAS AF: 0.704

Gnomad FIN AF: 0.488

Gnomad MID AF: 0.661

Gnomad NFE AF: 0.500

Gnomad OTH AF: 0.603

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

GnomAD4 genome AF: 0.617 AC: 93797 AN: 152076 Hom.: 30522 Cov.: 32 AF XY: 0.622 AC XY: 46243 AN XY: 74338

African (AFR) AF: 0.813 AC: 33730 AN: 41500

American (AMR) AF: 0.615 AC: 9402 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.564 AC: 1953 AN: 3464

East Asian (EAS) AF: 0.855 AC: 4416 AN: 5164

South Asian (SAS) AF: 0.705 AC: 3400 AN: 4824

European-Finnish (FIN) AF: 0.488 AC: 5154 AN: 10572

Middle Eastern (MID) AF: 0.660 AC: 194 AN: 294

European-Non Finnish (NFE) AF: 0.500 AC: 33990 AN: 67948

Other (OTH) AF: 0.602 AC: 1271 AN: 2112

Alfa AF: 0.542 Hom.: 2715

Bravo AF: 0.632

Asia WGS AF: 0.767 AC: 2666 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	0.046
DANN	Benign	0.45
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs11974306; hg19: chr7-21557362;