Genetic Variant :null (chr10-70170920-C-CTTTT) – ACMG Classification: Likely_benign (-4 pts)

Variant summary

Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BS2

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

Frequency

Genomes: 𝑓 0.011 ( 13 hom., cov: 0)

Consequence

Unknown

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.120

Publications

1 publications found

Variant links:

Genome browser will be placed here

ACMG classification

Our verdict: Likely_benign. The variant received -4 ACMG points.

BS2

High Homozygotes in GnomAd4 at 13 gene

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes

AF:

0.0114

AC:

830

AN:

73064

Hom.:

Cov.:

show subpopulations

Gnomad AFR

AF:

0.0126

Gnomad AMI

AF:

0.0155

Gnomad AMR

AF:

0.00546

Gnomad ASJ

AF:

0.00854

Gnomad EAS

AF:

0.00967

Gnomad SAS

AF:

0.00662

Gnomad FIN

AF:

0.00431

Gnomad MID

AF:

0.0250

Gnomad NFE

AF:

0.0123

Gnomad OTH

AF:

0.00438

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

GnomAD4 genome

AF:

0.0114

AC:

830

AN:

73076

Hom.:

Cov.:

AF XY:

0.0109

AC XY:

350

AN XY:

32164

show subpopulations

African (AFR)

AF:

0.0126

AC:

208

AN:

16542

American (AMR)

AF:

0.00545

AC:

AN:

5502

Ashkenazi Jewish (ASJ)

AF:

0.00854

AC:

AN:

2342

East Asian (EAS)

AF:

0.00971

AC:

AN:

2060

South Asian (SAS)

AF:

0.00666

AC:

AN:

1652

European-Finnish (FIN)

AF:

0.00431

AC:

AN:

928

Middle Eastern (MID)

AF:

0.0270

AC:

AN:

European-Non Finnish (NFE)

AF:

0.0123

AC:

522

AN:

42472

Other (OTH)

AF:

0.00434

AC:

AN:

922

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.523

Heterozygous variant carriers

127

159

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

Age Distribution

Genome Het

Genome Hom

Variant carriers

100

<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:

0.00983

Hom.:

236

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

PhyloP100

-0.12

Splicing

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

Publications

You must be logged in to view publications. This limit was set because tens of millions (!) of queries from AI bots are generated daily.

10-70170920-CTTTTTTTTTTTT-CTTTTTTTTTTTTTTTT

Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

Publications

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

Age Distribution

ClinVar

Computational scores

Splicing

Publications

Other links and lift over