rs1277979
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BP4_StrongBS2
In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0012 ( 0 hom., 5 hem., cov: 5)
Consequence
Unknown
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.709
Publications
2 publications found
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ACMG classification
Our verdict: Benign. The variant received -8 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-1.03).
BS2
High Hemizygotes in GnomAd4 at 5 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 0.00115 AC: 46AN: 39833Hom.: 0 Cov.: 5 show subpopulations
GnomAD3 genomes
AF:
AC:
46
AN:
39833
Hom.:
Cov.:
5
Gnomad AFR
AF:
Gnomad AMI
AF:
Gnomad AMR
AF:
Gnomad ASJ
AF:
Gnomad EAS
AF:
Gnomad SAS
AF:
Gnomad FIN
AF:
Gnomad MID
AF:
Gnomad NFE
AF:
Gnomad OTH
AF:
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome 0.00115 AC: 46AN: 39833Hom.: 0 Cov.: 5 AF XY: 0.000843 AC XY: 5AN XY: 5933 show subpopulations
GnomAD4 genome
AF:
AC:
46
AN:
39833
Hom.:
Cov.:
5
AF XY:
AC XY:
5
AN XY:
5933
show subpopulations
African (AFR)
AF:
AC:
0
AN:
12648
American (AMR)
AF:
AC:
3
AN:
2648
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
935
East Asian (EAS)
AF:
AC:
0
AN:
1386
South Asian (SAS)
AF:
AC:
0
AN:
819
European-Finnish (FIN)
AF:
AC:
0
AN:
1317
Middle Eastern (MID)
AF:
AC:
0
AN:
73
European-Non Finnish (NFE)
AF:
AC:
43
AN:
19272
Other (OTH)
AF:
AC:
0
AN:
480
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.520
Heterozygous variant carriers
0
2
4
5
7
9
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Genome Het
Genome Hom
Variant carriers
0
2
4
6
8
10
<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:
Hom.:
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
DANN
Benign
PhyloP100
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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