rs11771570

Variant names:

• chr7-131976170-G-A
• rs11771570

Your query was ambiguous. Multiple possible variants found:

• chr7-131976170-G-A
• chr7-131976170-G-C
• chr7-131976170-G-T

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 0.9 in 152,258 control chromosomes in the GnomAD database, including 61,939 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 0.90 (61939 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.751

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.976 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: 0.900 AC: 136862 AN: 152140 Hom.: 61872 Cov.: 33

Gnomad AFR AF: 0.975

Gnomad AMI AF: 0.835

Gnomad AMR AF: 0.914

Gnomad ASJ AF: 0.794

Gnomad EAS AF: 0.999

Gnomad SAS AF: 0.964

Gnomad FIN AF: 0.869

Gnomad MID AF: 0.858

Gnomad NFE AF: 0.849

Gnomad OTH AF: 0.900

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

GnomAD4 genome AF: 0.900 AC: 136987 AN: 152258 Hom.: 61939 Cov.: 33 AF XY: 0.903 AC XY: 67182 AN XY: 74436

Gnomad4 AFR AF: 0.975

Gnomad4 AMR AF: 0.914

Gnomad4 ASJ AF: 0.794

Gnomad4 EAS AF: 0.999

Gnomad4 SAS AF: 0.965

Gnomad4 FIN AF: 0.869

Gnomad4 NFE AF: 0.849

Gnomad4 OTH AF: 0.901

Alfa AF: 0.884 Hom.: 7574

Bravo AF: 0.904

Asia WGS AF: 0.978 AC: 3400 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	0.69
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: rs11771570; hg19: chr7-131660929;