7-155820363-A-G

Variant names:

• chr7-155820363-A-G
• rs6948512

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 0.466 in 151,852 control chromosomes in the GnomAD database, including 16,851 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 0.47 (16851 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.362
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.796 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.465 AC: 70632 AN: 151734 Hom.: 16808 Cov.: 32

Gnomad AFR AF: 0.480

Gnomad AMI AF: 0.365

Gnomad AMR AF: 0.427

Gnomad ASJ AF: 0.409

Gnomad EAS AF: 0.816

Gnomad SAS AF: 0.559

Gnomad FIN AF: 0.435

Gnomad MID AF: 0.404

Gnomad NFE AF: 0.443

Gnomad OTH AF: 0.424

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

GnomAD4 genome AF: 0.466 AC: 70729 AN: 151852 Hom.: 16851 Cov.: 32 AF XY: 0.468 AC XY: 34712 AN XY: 74164

African (AFR) AF: 0.480 AC: 19889 AN: 41414

American (AMR) AF: 0.427 AC: 6529 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.409 AC: 1419 AN: 3468

East Asian (EAS) AF: 0.817 AC: 4182 AN: 5118

South Asian (SAS) AF: 0.560 AC: 2693 AN: 4808

European-Finnish (FIN) AF: 0.435 AC: 4581 AN: 10530

Middle Eastern (MID) AF: 0.390 AC: 114 AN: 292

European-Non Finnish (NFE) AF: 0.443 AC: 30078 AN: 67912

Other (OTH) AF: 0.431 AC: 912 AN: 2114

Alfa AF: 0.450 Hom.: 2443

Bravo AF: 0.463

Asia WGS AF: 0.687 AC: 2390 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	3.0
DANN	Benign	0.36
PhyloP100		-0.36

Splicing

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

Other links and lift over

dbSNP: rs6948512; hg19: chr7-155613057; COSMIC: COSV60313384;