rs7304057

Variant names:

• chr12-130868017-A-G
• rs7304057

Your query was ambiguous. Multiple possible variants found:

• chr12-130868017-A-G
• chr12-130868017-A-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 0.137 in 151,984 control chromosomes in the GnomAD database, including 1,443 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 0.14 (1443 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.46
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.05).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.14 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: 0.137 AC: 20771 AN: 151866 Hom.: 1437 Cov.: 32

Gnomad AFR AF: 0.134

Gnomad AMI AF: 0.291

Gnomad AMR AF: 0.113

Gnomad ASJ AF: 0.163

Gnomad EAS AF: 0.122

Gnomad SAS AF: 0.0973

Gnomad FIN AF: 0.148

Gnomad MID AF: 0.118

Gnomad NFE AF: 0.143

Gnomad OTH AF: 0.129

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

GnomAD4 genome AF: 0.137 AC: 20793 AN: 151984 Hom.: 1443 Cov.: 32 AF XY: 0.136 AC XY: 10079 AN XY: 74290

African (AFR) AF: 0.134 AC: 5563 AN: 41448

American (AMR) AF: 0.113 AC: 1728 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.163 AC: 564 AN: 3466

East Asian (EAS) AF: 0.122 AC: 630 AN: 5150

South Asian (SAS) AF: 0.0974 AC: 469 AN: 4816

European-Finnish (FIN) AF: 0.148 AC: 1561 AN: 10572

Middle Eastern (MID) AF: 0.113 AC: 33 AN: 292

European-Non Finnish (NFE) AF: 0.143 AC: 9699 AN: 67952

Other (OTH) AF: 0.134 AC: 282 AN: 2106

Alfa AF: 0.132 Hom.: 180

Bravo AF: 0.133

Asia WGS AF: 0.118 AC: 409 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.1
CADD	Benign	1.0
DANN	Benign	0.16
PhyloP100		-2.5

Splicing

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

Other links and lift over

dbSNP: rs7304057; hg19: chr12-131352562;