6-61284899-A-G

Variant names:

• chr6-61284899-A-G
• rs1070635

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 0.835 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

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 (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

Gnomad4 AFR AF: 0.790

Gnomad4 AMR AF: 0.818

Gnomad4 ASJ AF: 0.788

Gnomad4 EAS AF: 0.703

Gnomad4 SAS AF: 0.778

Gnomad4 FIN AF: 0.866

Gnomad4 NFE AF: 0.879

Gnomad4 OTH AF: 0.820

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

Publications

LitVar

Other links and lift over

dbSNP: rs1070635; hg19: chr6-61952815;