rs1070635

Variant names:

• chr6-61284899-A-G
• rs1070635

Your query was ambiguous. Multiple possible variants found:

• chr6-61284899-A-G
• chr6-61284899-A-T

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 0.835 in 151,678 control chromosomes in the GnomAD database, including 53,114 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 0.84 (53114 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: No conservation score assigned
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.873 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: 0.835 AC: 126583 AN: 151560 Hom.: 53073 Cov.: 31

Gnomad AFR AF: 0.789

Gnomad AMI AF: 0.832

Gnomad AMR AF: 0.817

Gnomad ASJ AF: 0.788

Gnomad EAS AF: 0.703

Gnomad SAS AF: 0.779

Gnomad FIN AF: 0.866

Gnomad MID AF: 0.820

Gnomad NFE AF: 0.879

Gnomad OTH AF: 0.822

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

GnomAD4 genome AF: 0.835 AC: 126679 AN: 151678 Hom.: 53114 Cov.: 31 AF XY: 0.830 AC XY: 61460 AN XY: 74060

African (AFR) AF: 0.790 AC: 32684 AN: 41396

American (AMR) AF: 0.818 AC: 12396 AN: 15162

Ashkenazi Jewish (ASJ) AF: 0.788 AC: 2733 AN: 3470

East Asian (EAS) AF: 0.703 AC: 3569 AN: 5074

South Asian (SAS) AF: 0.778 AC: 3740 AN: 4808

European-Finnish (FIN) AF: 0.866 AC: 9158 AN: 10572

Middle Eastern (MID) AF: 0.820 AC: 241 AN: 294

European-Non Finnish (NFE) AF: 0.879 AC: 59667 AN: 67878

Other (OTH) AF: 0.820 AC: 1732 AN: 2112

Alfa AF: 0.867 Hom.: 9069

Bravo AF: 0.830

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.67

Splicing

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

Other links and lift over

dbSNP: rs1070635; hg19: chr6-61952815;