7-155820363-A-G

Variant names:

• chr7-155820363-A-G
• rs6948512

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 0.466 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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.465 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

Gnomad4 AFR AF: 0.480

Gnomad4 AMR AF: 0.427

Gnomad4 ASJ AF: 0.409

Gnomad4 EAS AF: 0.817

Gnomad4 SAS AF: 0.560

Gnomad4 FIN AF: 0.435

Gnomad4 NFE AF: 0.443

Gnomad4 OTH AF: 0.431

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 v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

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