dbSNP rs5889219: LOC124901865:n.7802051_7802052delAA (chr8-7802049-TAA-T) – ACMG Classification: Uncertain_significance (0 pts)

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.

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

Frequency

Genomes: 𝑓 0.38 ( 2050 hom., cov: 0)

Failed GnomAD Quality Control

Consequence

LOC124901865
intragenic

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.0880

Publications

2 publications found

Variant links:

Genes affected

LOC124901865 (HGNC:):

LOC124901865 links:

Genome browser will be placed here

ACMG classification

Classification was made for transcript

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000778473.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

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

Ensembl Transcripts

Gene	Transcript	HGVSc	Effect	Exon Rank
ENSG00000301357	ENST00000778473.1	n.34+871_34+872delTT	intron	N/A
ENSG00000301357	ENST00000778476.1	n.285+871_285+872delTT	intron	N/A
ENSG00000301357	ENST00000778477.1	n.38+871_38+872delTT	intron	N/A

Frequencies

GnomAD3 genomes

AF:

0.381

AC:

55781

AN:

146338

Hom.:

2043

Cov.:

show subpopulations

Gnomad AFR

AF:

0.417

Gnomad AMI

AF:

0.335

Gnomad AMR

AF:

0.355

Gnomad ASJ

AF:

0.406

Gnomad EAS

AF:

0.276

Gnomad SAS

AF:

0.338

Gnomad FIN

AF:

0.408

Gnomad MID

AF:

0.349

Gnomad NFE

AF:

0.372

Gnomad OTH

AF:

0.383

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

GnomAD4 genome

Data not reliable, filtered out with message: InbreedingCoeff

AF:

0.381

AC:

55836

AN:

146450

Hom.:

2050

Cov.:

AF XY:

0.380

AC XY:

27111

AN XY:

71394

show subpopulations

African (AFR)

AF:

0.417

AC:

16275

AN:

39042

American (AMR)

AF:

0.355

AC:

5216

AN:

14690

Ashkenazi Jewish (ASJ)

AF:

0.406

AC:

1382

AN:

3406

East Asian (EAS)

AF:

0.277

AC:

1384

AN:

5004

South Asian (SAS)

AF:

0.338

AC:

1567

AN:

4634

European-Finnish (FIN)

AF:

0.408

AC:

4141

AN:

10148

Middle Eastern (MID)

AF:

0.348

AC:

AN:

282

European-Non Finnish (NFE)

AF:

0.372

AC:

24696

AN:

66330

Other (OTH)

AF:

0.385

AC:

778

AN:

2022

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.484

Heterozygous variant carriers

1354

2708

4062

5416

6770

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

Age Distribution

Genome Het

Genome Hom

Variant carriers

646

1292

1938

2584

3230

<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:

0.382

Hom.:

196

Asia WGS

AF:

0.318

AC:

1103

AN:

3468

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name

Calibrated prediction

Score

Prediction

PhyloP100

-0.088

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