dbSNP rs36077162: :null (chr11-118680517-GA-G) – ACMG Classification: Benign (-8 pts)

Variant summary

Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BA1

No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.35 ( 9409 hom., cov: 0)

Consequence

Unknown

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.00

Publications

4 publications found

Variant links:

Genome browser will be placed here

ACMG classification

Our verdict: Benign. The variant received -8 ACMG points.

BA1

GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.463 is higher than 0.05.

Variant Effect in Transcripts

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes

AF:

0.346

AC:

52550

AN:

151708

Hom.:

9387

Cov.:

show subpopulations

Gnomad AFR

AF:

0.341

Gnomad AMI

AF:

0.482

Gnomad AMR

AF:

0.471

Gnomad ASJ

AF:

0.366

Gnomad EAS

AF:

0.442

Gnomad SAS

AF:

0.198

Gnomad FIN

AF:

0.311

Gnomad MID

AF:

0.354

Gnomad NFE

AF:

0.327

Gnomad OTH

AF:

0.353

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

GnomAD4 genome

AF:

0.347

AC:

52616

AN:

151826

Hom.:

9409

Cov.:

AF XY:

0.345

AC XY:

25593

AN XY:

74182

show subpopulations

African (AFR)

AF:

0.341

AC:

14130

AN:

41400

American (AMR)

AF:

0.472

AC:

7199

AN:

15238

Ashkenazi Jewish (ASJ)

AF:

0.366

AC:

1270

AN:

3472

East Asian (EAS)

AF:

0.443

AC:

2272

AN:

5134

South Asian (SAS)

AF:

0.196

AC:

945

AN:

4812

European-Finnish (FIN)

AF:

0.311

AC:

3283

AN:

10542

Middle Eastern (MID)

AF:

0.367

AC:

108

AN:

294

European-Non Finnish (NFE)

AF:

0.327

AC:

22226

AN:

67912

Other (OTH)

AF:

0.352

AC:

744

AN:

2112

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.496

Heterozygous variant carriers

1697

3395

5092

6790

8487

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

Age Distribution

Genome Het

Genome Hom

Variant carriers

496

992

1488

1984

2480

<30

30-35

35-40

40-45

45-50

50-55

55-60

60-65

65-70

70-75

75-80

>80

Age

Alfa

AF:

0.346

Hom.:

1117

Bravo

AF:

0.366

Asia WGS

AF:

0.304

AC:

1061

AN:

3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name

Calibrated prediction

Score

Prediction

PhyloP100

0.0

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Publications

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Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

Publications

ACMG classification

Variant Effect in Transcripts

RefSeq Transcripts

Ensembl Transcripts

Frequencies

Age Distribution

ClinVar

Computational scores

Splicing

Publications

Other links and lift over