dbSNP rs35280644: :null (chr19-4886376-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 0.36 ( 11136 hom., cov: 0)

Consequence

Unknown

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.162

Publications

1 publications found

Variant links:

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ACMG classification

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

BA1

GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.523 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:

0.356

AC:

53913

AN:

151610

Hom.:

11123

Cov.:

show subpopulations

Gnomad AFR

AF:

0.115

Gnomad AMI

AF:

0.333

Gnomad AMR

AF:

0.373

Gnomad ASJ

AF:

0.383

Gnomad EAS

AF:

0.539

Gnomad SAS

AF:

0.452

Gnomad FIN

AF:

0.554

Gnomad MID

AF:

0.304

Gnomad NFE

AF:

0.447

Gnomad OTH

AF:

0.341

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

GnomAD4 genome

AF:

0.356

AC:

53943

AN:

151728

Hom.:

11136

Cov.:

AF XY:

0.361

AC XY:

26772

AN XY:

74122

show subpopulations

African (AFR)

AF:

0.114

AC:

4738

AN:

41446

American (AMR)

AF:

0.373

AC:

5661

AN:

15182

Ashkenazi Jewish (ASJ)

AF:

0.383

AC:

1325

AN:

3464

East Asian (EAS)

AF:

0.540

AC:

2750

AN:

5094

South Asian (SAS)

AF:

0.453

AC:

2185

AN:

4828

European-Finnish (FIN)

AF:

0.554

AC:

5828

AN:

10518

Middle Eastern (MID)

AF:

0.313

AC:

AN:

294

European-Non Finnish (NFE)

AF:

0.447

AC:

30331

AN:

67888

Other (OTH)

AF:

0.347

AC:

731

AN:

2108

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.516

Heterozygous variant carriers

1590

3181

4771

6362

7952

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

Age Distribution

Genome Het

Genome Hom

Variant carriers

540

1080

1620

2160

2700

<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:

0.391

Hom.:

1510

Asia WGS

AF:

0.507

AC:

1759

AN:

3472

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