rs11770725

Variant names:

• chr7-128238214-T-C
• rs11770725

Your query was ambiguous. Multiple possible variants found:

• chr7-128238214-T-C
• chr7-128238214-T-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.446 in 152,122 control chromosomes in the GnomAD database, including 17,974 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 0.45 (17974 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.781

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.726 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: 0.447 AC: 67890 AN: 152004 Hom.: 17970 Cov.: 33

Gnomad AFR AF: 0.145

Gnomad AMI AF: 0.646

Gnomad AMR AF: 0.513

Gnomad ASJ AF: 0.527

Gnomad EAS AF: 0.744

Gnomad SAS AF: 0.643

Gnomad FIN AF: 0.561

Gnomad MID AF: 0.560

Gnomad NFE AF: 0.553

Gnomad OTH AF: 0.473

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

GnomAD4 genome AF: 0.446 AC: 67908 AN: 152122 Hom.: 17974 Cov.: 33 AF XY: 0.455 AC XY: 33804 AN XY: 74342

Gnomad4 AFR AF: 0.145

Gnomad4 AMR AF: 0.513

Gnomad4 ASJ AF: 0.527

Gnomad4 EAS AF: 0.745

Gnomad4 SAS AF: 0.643

Gnomad4 FIN AF: 0.561

Gnomad4 NFE AF: 0.553

Gnomad4 OTH AF: 0.476

Alfa AF: 0.474 Hom.: 2338

Bravo AF: 0.425

Asia WGS AF: 0.669 AC: 2321 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.69
DANN	Benign	0.41

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11770725; hg19: chr7-127878267;