chr11-7108010-T-G

Variant names:

• chr11-7108010-T-G
• rs6578831

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 0.214 in 152,090 control chromosomes in the GnomAD database, including 3,635 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 0.21 (3635 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.125
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.73).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.243 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: 0.213 AC: 32445 AN: 151972 Hom.: 3634 Cov.: 32

Gnomad AFR AF: 0.192

Gnomad AMI AF: 0.256

Gnomad AMR AF: 0.182

Gnomad ASJ AF: 0.232

Gnomad EAS AF: 0.139

Gnomad SAS AF: 0.201

Gnomad FIN AF: 0.158

Gnomad MID AF: 0.241

Gnomad NFE AF: 0.246

Gnomad OTH AF: 0.257

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

GnomAD4 genome AF: 0.214 AC: 32479 AN: 152090 Hom.: 3635 Cov.: 32 AF XY: 0.209 AC XY: 15541 AN XY: 74342

African (AFR) AF: 0.192 AC: 7975 AN: 41504

American (AMR) AF: 0.182 AC: 2773 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.232 AC: 804 AN: 3472

East Asian (EAS) AF: 0.139 AC: 719 AN: 5168

South Asian (SAS) AF: 0.203 AC: 975 AN: 4812

European-Finnish (FIN) AF: 0.158 AC: 1670 AN: 10594

Middle Eastern (MID) AF: 0.228 AC: 67 AN: 294

European-Non Finnish (NFE) AF: 0.246 AC: 16728 AN: 67960

Other (OTH) AF: 0.255 AC: 536 AN: 2106

Alfa AF: 0.226 Hom.: 491

Bravo AF: 0.215

Asia WGS AF: 0.186 AC: 648 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.73
CADD	Benign	7.8
DANN	Benign	0.85
PhyloP100		0.13

Splicing

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

Other links and lift over

dbSNP: rs6578831; hg19: chr11-7129241;