rs7136900

Variant names:

• chr12-12270159-G-A
• rs7136900

Your query was ambiguous. Multiple possible variants found:

• chr12-12270159-G-A
• chr12-12270159-G-C

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 0.347 in 151,958 control chromosomes in the GnomAD database, including 9,657 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 0.35 (9657 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.227

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.77).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.419 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: 0.347 AC: 52647 AN: 151840 Hom.: 9649 Cov.: 31

Gnomad AFR AF: 0.424

Gnomad AMI AF: 0.412

Gnomad AMR AF: 0.289

Gnomad ASJ AF: 0.338

Gnomad EAS AF: 0.0811

Gnomad SAS AF: 0.192

Gnomad FIN AF: 0.334

Gnomad MID AF: 0.399

Gnomad NFE AF: 0.345

Gnomad OTH AF: 0.361

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

GnomAD4 genome AF: 0.347 AC: 52689 AN: 151958 Hom.: 9657 Cov.: 31 AF XY: 0.342 AC XY: 25363 AN XY: 74234

Gnomad4 AFR AF: 0.424

Gnomad4 AMR AF: 0.288

Gnomad4 ASJ AF: 0.338

Gnomad4 EAS AF: 0.0813

Gnomad4 SAS AF: 0.193

Gnomad4 FIN AF: 0.334

Gnomad4 NFE AF: 0.345

Gnomad4 OTH AF: 0.358

Alfa AF: 0.348 Hom.: 11809

Bravo AF: 0.351

Asia WGS AF: 0.158 AC: 554 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.77
CADD	Benign	4.6
DANN	Benign	0.76

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7136900; hg19: chr12-12423093;