rs68184094

Variant names:

• chr2-26027030-T-A
• rs68184094

Your query was ambiguous. Multiple possible variants found:

• chr2-26027030-T-A
• chr2-26027030-T-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 0.0511 in 145,228 control chromosomes in the GnomAD database, including 239 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 0.051 (239 hom., cov: 28)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.575

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0691 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: 0.0511 AC: 7416 AN: 145132 Hom.: 239 Cov.: 28

Gnomad AFR AF: 0.0119

Gnomad AMI AF: 0.129

Gnomad AMR AF: 0.0524

Gnomad ASJ AF: 0.0943

Gnomad EAS AF: 0.00180

Gnomad SAS AF: 0.0411

Gnomad FIN AF: 0.0783

Gnomad MID AF: 0.0710

Gnomad NFE AF: 0.0708

Gnomad OTH AF: 0.0663

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

GnomAD4 genome AF: 0.0511 AC: 7414 AN: 145228 Hom.: 239 Cov.: 28 AF XY: 0.0509 AC XY: 3588 AN XY: 70480

Gnomad4 AFR AF: 0.0119

Gnomad4 AMR AF: 0.0524

Gnomad4 ASJ AF: 0.0943

Gnomad4 EAS AF: 0.00180

Gnomad4 SAS AF: 0.0415

Gnomad4 FIN AF: 0.0783

Gnomad4 NFE AF: 0.0708

Gnomad4 OTH AF: 0.0650

Alfa AF: 0.0218 Hom.: 8

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	3.3
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: rs68184094; hg19: chr2-26249899;