Genetic Variant :null (chr17-43760137-GTCC-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 0.59 ( 26979 hom., cov: 0)

Consequence

Unknown

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.407

Publications

4 publications found

Variant links:

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ACMG classification

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

BA1

GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.646 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:

0.592

AC:

89625

AN:

151516

Hom.:

26958

Cov.:

show subpopulations

Gnomad AFR

AF:

0.511

Gnomad AMI

AF:

0.579

Gnomad AMR

AF:

0.554

Gnomad ASJ

AF:

0.622

Gnomad EAS

AF:

0.343

Gnomad SAS

AF:

0.663

Gnomad FIN

AF:

0.747

Gnomad MID

AF:

0.571

Gnomad NFE

AF:

0.638

Gnomad OTH

AF:

0.572

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

GnomAD4 genome

AF:

0.592

AC:

89693

AN:

151634

Hom.:

26979

Cov.:

AF XY:

0.596

AC XY:

44120

AN XY:

74054

show subpopulations

African (AFR)

AF:

0.511

AC:

21114

AN:

41332

American (AMR)

AF:

0.554

AC:

8436

AN:

15240

Ashkenazi Jewish (ASJ)

AF:

0.622

AC:

2158

AN:

3470

East Asian (EAS)

AF:

0.342

AC:

1761

AN:

5142

South Asian (SAS)

AF:

0.665

AC:

3204

AN:

4818

European-Finnish (FIN)

AF:

0.747

AC:

7833

AN:

10490

Middle Eastern (MID)

AF:

0.573

AC:

165

AN:

288

European-Non Finnish (NFE)

AF:

0.638

AC:

43281

AN:

67834

Other (OTH)

AF:

0.575

AC:

1213

AN:

2108

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.499

Heterozygous variant carriers

1825

3649

5474

7298

9123

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

Age Distribution

Genome Het

Genome Hom

Variant carriers

750

1500

2250

3000

3750

<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:

0.625

Hom.:

3612

Bravo

AF:

0.570

Asia WGS

AF:

0.510

AC:

1775

AN:

3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name

Calibrated prediction

Score

Prediction

PhyloP100

0.41

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