dbSNP rs36079334: :null (chr15-32716207-A-AT) – 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 0.61 ( 30287 hom., cov: 0)

Consequence

Unknown

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.161

Publications

1 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 (EAS) allele frequency at 95% confidence interval = 0.937 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:

0.611

AC:

92594

AN:

151560

Hom.:

30249

Cov.:

show subpopulations

Gnomad AFR

AF:

0.811

Gnomad AMI

AF:

0.566

Gnomad AMR

AF:

0.576

Gnomad ASJ

AF:

0.464

Gnomad EAS

AF:

0.960

Gnomad SAS

AF:

0.733

Gnomad FIN

AF:

0.579

Gnomad MID

AF:

0.563

Gnomad NFE

AF:

0.477

Gnomad OTH

AF:

0.573

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

GnomAD4 genome

AF:

0.611

AC:

92690

AN:

151678

Hom.:

30287

Cov.:

AF XY:

0.617

AC XY:

45707

AN XY:

74126

show subpopulations

African (AFR)

AF:

0.811

AC:

33520

AN:

41326

American (AMR)

AF:

0.576

AC:

8778

AN:

15242

Ashkenazi Jewish (ASJ)

AF:

0.464

AC:

1612

AN:

3472

East Asian (EAS)

AF:

0.960

AC:

4952

AN:

5160

South Asian (SAS)

AF:

0.732

AC:

3524

AN:

4812

European-Finnish (FIN)

AF:

0.579

AC:

6062

AN:

10470

Middle Eastern (MID)

AF:

0.554

AC:

163

AN:

294

European-Non Finnish (NFE)

AF:

0.477

AC:

32354

AN:

67890

Other (OTH)

AF:

0.576

AC:

1211

AN:

2104

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.503

Heterozygous variant carriers

1631

3261

4892

6522

8153

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

Age Distribution

Genome Het

Genome Hom

Variant carriers

744

1488

2232

2976

3720

<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:

0.405

Hom.:

859

Asia WGS

AF:

0.836

AC:

2902

AN:

3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name

Calibrated prediction

Score

Prediction

PhyloP100

0.16

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