rs13236930

Variant names:

• chr7-68561096-C-G
• rs13236930

Your query was ambiguous. Multiple possible variants found:

• chr7-68561096-C-G
• chr7-68561096-C-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 0.166 in 152,102 control chromosomes in the GnomAD database, including 2,443 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 0.17 (2443 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.402
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.272 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: 0.166 AC: 25256 AN: 151984 Hom.: 2447 Cov.: 32

Gnomad AFR AF: 0.276

Gnomad AMI AF: 0.0329

Gnomad AMR AF: 0.111

Gnomad ASJ AF: 0.146

Gnomad EAS AF: 0.00616

Gnomad SAS AF: 0.120

Gnomad FIN AF: 0.101

Gnomad MID AF: 0.212

Gnomad NFE AF: 0.140

Gnomad OTH AF: 0.172

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

GnomAD4 genome AF: 0.166 AC: 25256 AN: 152102 Hom.: 2443 Cov.: 32 AF XY: 0.161 AC XY: 11994 AN XY: 74372

African (AFR) AF: 0.276 AC: 11439 AN: 41452

American (AMR) AF: 0.111 AC: 1696 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.146 AC: 505 AN: 3468

East Asian (EAS) AF: 0.00636 AC: 33 AN: 5186

South Asian (SAS) AF: 0.120 AC: 576 AN: 4820

European-Finnish (FIN) AF: 0.101 AC: 1066 AN: 10588

Middle Eastern (MID) AF: 0.211 AC: 62 AN: 294

European-Non Finnish (NFE) AF: 0.140 AC: 9491 AN: 68004

Other (OTH) AF: 0.170 AC: 358 AN: 2106

Alfa AF: 0.0618 Hom.: 57

Bravo AF: 0.170

Asia WGS AF: 0.0910 AC: 318 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.13
DANN	Benign	0.32
PhyloP100		-0.40

Splicing

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

Other links and lift over

dbSNP: rs13236930; hg19: chr7-68026083;