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. The variant received -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
• Publications: 0 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.0119 AC: 468 AN: 39328

American (AMR) AF: 0.0524 AC: 760 AN: 14512

Ashkenazi Jewish (ASJ) AF: 0.0943 AC: 318 AN: 3374

East Asian (EAS) AF: 0.00180 AC: 9 AN: 5002

South Asian (SAS) AF: 0.0415 AC: 181 AN: 4366

European-Finnish (FIN) AF: 0.0783 AC: 722 AN: 9220

Middle Eastern (MID) AF: 0.0664 AC: 19 AN: 286

European-Non Finnish (NFE) AF: 0.0708 AC: 4694 AN: 66278

Other (OTH) AF: 0.0650 AC: 128 AN: 1970

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
PhyloP100		0.57

Splicing

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

Other links and lift over

dbSNP: rs68184094; hg19: chr2-26249899;