rs236768

Variant names:

• chr4-102154826-G-A
• rs236768

Your query was ambiguous. Multiple possible variants found:

• chr4-102154826-G-A
• chr4-102154826-G-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 0.793 in 152,180 control chromosomes in the GnomAD database, including 48,052 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 0.79 (48052 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.831
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.813 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.793 AC: 120524 AN: 152062 Hom.: 48018 Cov.: 32

Gnomad AFR AF: 0.781

Gnomad AMI AF: 0.825

Gnomad AMR AF: 0.721

Gnomad ASJ AF: 0.731

Gnomad EAS AF: 0.674

Gnomad SAS AF: 0.826

Gnomad FIN AF: 0.842

Gnomad MID AF: 0.785

Gnomad NFE AF: 0.818

Gnomad OTH AF: 0.770

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

GnomAD4 genome AF: 0.793 AC: 120615 AN: 152180 Hom.: 48052 Cov.: 32 AF XY: 0.790 AC XY: 58809 AN XY: 74404

African (AFR) AF: 0.781 AC: 32425 AN: 41512

American (AMR) AF: 0.722 AC: 11032 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.731 AC: 2538 AN: 3470

East Asian (EAS) AF: 0.673 AC: 3472 AN: 5162

South Asian (SAS) AF: 0.825 AC: 3977 AN: 4820

European-Finnish (FIN) AF: 0.842 AC: 8912 AN: 10586

Middle Eastern (MID) AF: 0.786 AC: 231 AN: 294

European-Non Finnish (NFE) AF: 0.818 AC: 55658 AN: 68024

Other (OTH) AF: 0.767 AC: 1618 AN: 2110

Alfa AF: 0.814 Hom.: 28048

Bravo AF: 0.781

Asia WGS AF: 0.739 AC: 2570 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.18
DANN	Benign	0.20
PhyloP100		-0.83

Splicing

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

Other links and lift over

dbSNP: rs236768; hg19: chr4-103075983;