rs7297961

Variant names:

• chr12-6345131-A-G
• rs7297961

Your query was ambiguous. Multiple possible variants found:

• chr12-6345131-A-G
• chr12-6345131-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 0.157 in 152,220 control chromosomes in the GnomAD database, including 4,962 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 0.16 (4962 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.477
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.67).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.469 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: 0.157 AC: 23909 AN: 152102 Hom.: 4951 Cov.: 32

Gnomad AFR AF: 0.475

Gnomad AMI AF: 0.0252

Gnomad AMR AF: 0.125

Gnomad ASJ AF: 0.0418

Gnomad EAS AF: 0.0899

Gnomad SAS AF: 0.0718

Gnomad FIN AF: 0.0160

Gnomad MID AF: 0.0981

Gnomad NFE AF: 0.0135

Gnomad OTH AF: 0.132

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

GnomAD4 genome AF: 0.157 AC: 23961 AN: 152220 Hom.: 4962 Cov.: 32 AF XY: 0.156 AC XY: 11630 AN XY: 74434

African (AFR) AF: 0.475 AC: 19686 AN: 41480

American (AMR) AF: 0.124 AC: 1903 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.0418 AC: 145 AN: 3470

East Asian (EAS) AF: 0.0901 AC: 468 AN: 5194

South Asian (SAS) AF: 0.0713 AC: 344 AN: 4826

European-Finnish (FIN) AF: 0.0160 AC: 170 AN: 10624

Middle Eastern (MID) AF: 0.102 AC: 30 AN: 294

European-Non Finnish (NFE) AF: 0.0134 AC: 914 AN: 68016

Other (OTH) AF: 0.132 AC: 278 AN: 2112

Alfa AF: 0.0458 Hom.: 1738

Bravo AF: 0.178

Asia WGS AF: 0.101 AC: 352 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.67
CADD	Benign	8.4
DANN	Benign	0.79
PhyloP100		0.48

Splicing

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

Other links and lift over

dbSNP: rs7297961; hg19: chr12-6454297;