rs7298096

Variant names:

• chr12-667305-G-A
• rs7298096

Your query was ambiguous. Multiple possible variants found:

• chr12-667305-G-A
• chr12-667305-G-C
• chr12-667305-G-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 0.564 in 151,986 control chromosomes in the GnomAD database, including 24,222 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 0.56 (24222 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.141
• Publications: 16 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.8).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.565 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: 0.564 AC: 85682 AN: 151868 Hom.: 24189 Cov.: 31

Gnomad AFR AF: 0.571

Gnomad AMI AF: 0.409

Gnomad AMR AF: 0.542

Gnomad ASJ AF: 0.544

Gnomad EAS AF: 0.545

Gnomad SAS AF: 0.561

Gnomad FIN AF: 0.654

Gnomad MID AF: 0.455

Gnomad NFE AF: 0.557

Gnomad OTH AF: 0.546

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

GnomAD4 genome AF: 0.564 AC: 85761 AN: 151986 Hom.: 24222 Cov.: 31 AF XY: 0.568 AC XY: 42191 AN XY: 74294

African (AFR) AF: 0.572 AC: 23685 AN: 41438

American (AMR) AF: 0.542 AC: 8279 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.544 AC: 1889 AN: 3472

East Asian (EAS) AF: 0.546 AC: 2816 AN: 5162

South Asian (SAS) AF: 0.560 AC: 2699 AN: 4820

European-Finnish (FIN) AF: 0.654 AC: 6914 AN: 10566

Middle Eastern (MID) AF: 0.442 AC: 129 AN: 292

European-Non Finnish (NFE) AF: 0.557 AC: 37823 AN: 67950

Other (OTH) AF: 0.549 AC: 1155 AN: 2104

Alfa AF: 0.553 Hom.: 100632

Bravo AF: 0.557

Asia WGS AF: 0.595 AC: 2070 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.80
CADD	Benign	6.0
DANN	Benign	0.69
PhyloP100		0.14

Splicing

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

Other links and lift over

dbSNP: rs7298096; hg19: chr12-776471;