rs12668203

Positions:

• chr7-91673883-A-G

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 0.118 in 151,694 control chromosomes in the GnomAD database, including 1,163 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 0.12 (1163 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.883

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.229 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.118 AC: 17896 AN: 151582 Hom.: 1162 Cov.: 30

Gnomad AFR AF: 0.154

Gnomad AMI AF: 0.101

Gnomad AMR AF: 0.112

Gnomad ASJ AF: 0.108

Gnomad EAS AF: 0.240

Gnomad SAS AF: 0.140

Gnomad FIN AF: 0.0826

Gnomad MID AF: 0.155

Gnomad NFE AF: 0.0927

Gnomad OTH AF: 0.120

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

GnomAD4 genome AF: 0.118 AC: 17912 AN: 151694 Hom.: 1163 Cov.: 30 AF XY: 0.119 AC XY: 8834 AN XY: 74148

Gnomad4 AFR AF: 0.154

Gnomad4 AMR AF: 0.112

Gnomad4 ASJ AF: 0.108

Gnomad4 EAS AF: 0.240

Gnomad4 SAS AF: 0.139

Gnomad4 FIN AF: 0.0826

Gnomad4 NFE AF: 0.0927

Gnomad4 OTH AF: 0.119

Alfa AF: 0.101 Hom.: 913

Bravo AF: 0.123

Asia WGS AF: 0.159 AC: 552 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	6.7
DANN	Benign	0.69

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs12668203; hg19: chr7-91303198;