chr14-68221985-C-T
Variant names:
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_133510.4(RAD51B):c.757-69899C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.175 in 152,068 control chromosomes in the GnomAD database, including 2,482 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 0.17 ( 2482 hom., cov: 32)
Consequence
RAD51B
NM_133510.4 intron
NM_133510.4 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.972
Publications
0 publications found
Genes affected
RAD51B (HGNC:9822): (RAD51 paralog B) The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are evolutionarily conserved proteins essential for DNA repair by homologous recombination. This protein has been shown to form a stable heterodimer with the family member RAD51C, which further interacts with the other family members, such as RAD51, XRCC2, and XRCC3. Overexpression of this gene was found to cause cell cycle G1 delay and cell apoptosis, which suggested a role of this protein in sensing DNA damage. Rearrangements between this locus and high mobility group AT-hook 2 (HMGA2, GeneID 8091) have been observed in uterine leiomyomata. [provided by RefSeq, Mar 2016]
RAD51B Gene-Disease associations (from GenCC):
- primary ovarian failureInheritance: AR Classification: LIMITED Submitted by: Ambry Genetics
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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=-1.0).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.217 is higher than 0.05.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.175 AC: 26557AN: 151950Hom.: 2473 Cov.: 32 show subpopulations
GnomAD3 genomes
AF:
AC:
26557
AN:
151950
Hom.:
Cov.:
32
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: 0.175 AC: 26596AN: 152068Hom.: 2482 Cov.: 32 AF XY: 0.173 AC XY: 12846AN XY: 74328 show subpopulations
GnomAD4 genome
AF:
AC:
26596
AN:
152068
Hom.:
Cov.:
32
AF XY:
AC XY:
12846
AN XY:
74328
show subpopulations
African (AFR)
AF:
AC:
9167
AN:
41482
American (AMR)
AF:
AC:
2615
AN:
15274
Ashkenazi Jewish (ASJ)
AF:
AC:
996
AN:
3472
East Asian (EAS)
AF:
AC:
117
AN:
5180
South Asian (SAS)
AF:
AC:
815
AN:
4824
European-Finnish (FIN)
AF:
AC:
1328
AN:
10568
Middle Eastern (MID)
AF:
AC:
106
AN:
294
European-Non Finnish (NFE)
AF:
AC:
10898
AN:
67954
Other (OTH)
AF:
AC:
431
AN:
2112
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.501
Heterozygous variant carriers
0
1144
2288
3433
4577
5721
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Age Distribution
Genome Het
Genome Hom
Variant carriers
0
278
556
834
1112
1390
<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.:
Bravo
AF:
Asia WGS
AF:
AC:
435
AN:
3478
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
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