rs10749863
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_014774.3(EFCAB14):c.335-605C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.805 in 152,250 control chromosomes in the GnomAD database, including 49,469 homozygotes. 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 0.80 ( 49469 hom., cov: 33)
Consequence
EFCAB14
NM_014774.3 intron
NM_014774.3 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.0400
Publications
7 publications found
Genes affected
Genome browser will be placed here
ACMG classification
Classification was made for transcript
Our verdict: Benign. The variant received -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.89).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.891 is higher than 0.05.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.805 AC: 122402AN: 152132Hom.: 49397 Cov.: 33 show subpopulations
GnomAD3 genomes
AF:
AC:
122402
AN:
152132
Hom.:
Cov.:
33
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 AF: 0.805 AC: 122530AN: 152250Hom.: 49469 Cov.: 33 AF XY: 0.807 AC XY: 60100AN XY: 74436 show subpopulations
GnomAD4 genome
AF:
AC:
122530
AN:
152250
Hom.:
Cov.:
33
AF XY:
AC XY:
60100
AN XY:
74436
show subpopulations
African (AFR)
AF:
AC:
34797
AN:
41542
American (AMR)
AF:
AC:
13275
AN:
15298
Ashkenazi Jewish (ASJ)
AF:
AC:
2704
AN:
3472
East Asian (EAS)
AF:
AC:
4735
AN:
5190
South Asian (SAS)
AF:
AC:
3518
AN:
4828
European-Finnish (FIN)
AF:
AC:
8219
AN:
10584
Middle Eastern (MID)
AF:
AC:
255
AN:
294
European-Non Finnish (NFE)
AF:
AC:
52611
AN:
68014
Other (OTH)
AF:
AC:
1751
AN:
2116
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.505
Heterozygous variant carriers
0
1244
2489
3733
4978
6222
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Alfa
AF:
Hom.:
Bravo
AF:
Asia WGS
AF:
AC:
2855
AN:
3476
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
DANN
Benign
PhyloP100
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
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.