GeneBe

chr14-104797011-C-CT

Variant names:

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 0.84 ( 55334 hom., cov: 0)

Consequence

Unknown

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.0410

Publications

3 publications found
Variant links:

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ACMG classification

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

BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.917 is higher than 0.05.

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:
0.844
AC:
128309
AN:
152016
Hom.:
55291
Cov.:
0
show subpopulations
Gnomad AFR
AF:
0.796
Gnomad AMI
AF:
0.936
Gnomad AMR
AF:
0.783
Gnomad ASJ
AF:
0.886
Gnomad EAS
AF:
0.335
Gnomad SAS
AF:
0.659
Gnomad FIN
AF:
0.927
Gnomad MID
AF:
0.801
Gnomad NFE
AF:
0.923
Gnomad OTH
AF:
0.849
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.844
AC:
128417
AN:
152134
Hom.:
55334
Cov.:
0
AF XY:
0.837
AC XY:
62288
AN XY:
74386
show subpopulations
African (AFR)
AF:
0.795
AC:
32990
AN:
41474
American (AMR)
AF:
0.783
AC:
11976
AN:
15286
Ashkenazi Jewish (ASJ)
AF:
0.886
AC:
3075
AN:
3472
East Asian (EAS)
AF:
0.336
AC:
1734
AN:
5158
South Asian (SAS)
AF:
0.661
AC:
3196
AN:
4832
European-Finnish (FIN)
AF:
0.927
AC:
9847
AN:
10618
Middle Eastern (MID)
AF:
0.803
AC:
236
AN:
294
European-Non Finnish (NFE)
AF:
0.923
AC:
62721
AN:
67974
Other (OTH)
AF:
0.846
AC:
1788
AN:
2114
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.503
Heterozygous variant carriers
0
930
1860
2791
3721
4651
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

Age Distribution

Genome Het
Genome Hom
Variant carriers
0
876
1752
2628
3504
4380
<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:
0.882
Hom.:
7244
Asia WGS
AF:
0.513
AC:
1789
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
PhyloP100
0.041

Splicing

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

Publications

Other links and lift over

dbSNP: rs5811155; hg19: chr14-105263348; API