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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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

Gnomad4 AFR AF: 0.475

Gnomad4 AMR AF: 0.124

Gnomad4 ASJ AF: 0.0418

Gnomad4 EAS AF: 0.0901

Gnomad4 SAS AF: 0.0713

Gnomad4 FIN AF: 0.0160

Gnomad4 NFE AF: 0.0134

Gnomad4 OTH AF: 0.132

Alfa AF: 0.0534 Hom.: 544

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7297961; hg19: chr12-6454297;