rs7071307

Variant names:

• chr10-131557326-A-C
• rs7071307

Your query was ambiguous. Multiple possible variants found:

• chr10-131557326-A-C
• chr10-131557326-A-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 0.606 in 151,342 control chromosomes in the GnomAD database, including 27,921 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 0.61 (27921 hom., cov: 27)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.204

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.76).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.662 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: 0.606 AC: 91607 AN: 151220 Hom.: 27897 Cov.: 27

Gnomad AFR AF: 0.669

Gnomad AMI AF: 0.679

Gnomad AMR AF: 0.518

Gnomad ASJ AF: 0.735

Gnomad EAS AF: 0.656

Gnomad SAS AF: 0.644

Gnomad FIN AF: 0.608

Gnomad MID AF: 0.747

Gnomad NFE AF: 0.572

Gnomad OTH AF: 0.606

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

GnomAD4 genome AF: 0.606 AC: 91677 AN: 151342 Hom.: 27921 Cov.: 27 AF XY: 0.607 AC XY: 44876 AN XY: 73914

Gnomad4 AFR AF: 0.669

Gnomad4 AMR AF: 0.518

Gnomad4 ASJ AF: 0.735

Gnomad4 EAS AF: 0.656

Gnomad4 SAS AF: 0.643

Gnomad4 FIN AF: 0.608

Gnomad4 NFE AF: 0.572

Gnomad4 OTH AF: 0.607

Alfa AF: 0.583 Hom.: 42916

Bravo AF: 0.601

Asia WGS AF: 0.650 AC: 2261 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.76
CADD	Benign	13
DANN	Benign	0.51

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7071307; hg19: chr10-133355589;