chr7-2542818-T-C
Variant names:
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_152743.4(BRAT1):c.923+386A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.149 in 173,482 control chromosomes in the GnomAD database, including 2,163 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 0.15 ( 1958 hom., cov: 32)
Exomes 𝑓: 0.12 ( 205 hom. )
Consequence
BRAT1
NM_152743.4 intron
NM_152743.4 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.21
Genes affected
BRAT1 (HGNC:21701): (BRCA1 associated ATM activator 1) The protein encoded by this ubiquitously expressed gene interacts with the tumor suppressing BRCA1 (breast cancer 1) protein and and the ATM (ataxia telangiectasia mutated) protein. ATM is thought to be a master controller of cell cycle checkpoint signalling pathways that are required for cellular responses to DNA damage such as double-strand breaks that are induced by ionizing radiation and complexes with BRCA1 in the multi-protein complex BASC (BRAC1-associated genome surveillance complex). The protein encoded by this gene is thought to play a role in the DNA damage pathway regulated by BRCA1 and ATM. [provided by RefSeq, Mar 2012]
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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=-0.92).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.214 is higher than 0.05.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.154 AC: 23340AN: 151854Hom.: 1955 Cov.: 32 show subpopulations
GnomAD3 genomes
AF:
AC:
23340
AN:
151854
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:
GnomAD4 exome AF: 0.119 AC: 2561AN: 21510Hom.: 205 Cov.: 0 AF XY: 0.113 AC XY: 1253AN XY: 11126 show subpopulations
GnomAD4 exome
AF:
AC:
2561
AN:
21510
Hom.:
Cov.:
0
AF XY:
AC XY:
1253
AN XY:
11126
Gnomad4 AFR exome
AF:
AC:
82
AN:
402
Gnomad4 AMR exome
AF:
AC:
262
AN:
1892
Gnomad4 ASJ exome
AF:
AC:
65
AN:
476
Gnomad4 EAS exome
AF:
AC:
68
AN:
470
Gnomad4 SAS exome
AF:
AC:
115
AN:
2092
Gnomad4 FIN exome
AF:
AC:
133
AN:
876
Gnomad4 NFE exome
AF:
AC:
1393
AN:
12364
Gnomad4 Remaining exome
AF:
AC:
163
AN:
1220
Heterozygous variant carriers
0
104
208
311
415
519
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Exome Het
Exome Hom
Variant carriers
0
32
64
96
128
160
<30
30-35
35-40
40-45
45-50
50-55
55-60
60-65
65-70
70-75
75-80
>80
Age
GnomAD4 genome AF: 0.154 AC: 23368AN: 151972Hom.: 1958 Cov.: 32 AF XY: 0.154 AC XY: 11455AN XY: 74290 show subpopulations
GnomAD4 genome
AF:
AC:
23368
AN:
151972
Hom.:
Cov.:
32
AF XY:
AC XY:
11455
AN XY:
74290
Gnomad4 AFR
AF:
AC:
0.218199
AN:
0.218199
Gnomad4 AMR
AF:
AC:
0.144073
AN:
0.144073
Gnomad4 ASJ
AF:
AC:
0.129971
AN:
0.129971
Gnomad4 EAS
AF:
AC:
0.0914041
AN:
0.0914041
Gnomad4 SAS
AF:
AC:
0.0694732
AN:
0.0694732
Gnomad4 FIN
AF:
AC:
0.189567
AN:
0.189567
Gnomad4 NFE
AF:
AC:
0.120559
AN:
0.120559
Gnomad4 OTH
AF:
AC:
0.153226
AN:
0.153226
Heterozygous variant carriers
0
1013
2026
3039
4052
5065
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Genome Het
Genome Hom
Variant carriers
0
244
488
732
976
1220
<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:
340
AN:
3478
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
DANN
Benign
RBP_binding_hub_radar
RBP_regulation_power_radar
Mutation Taster
=100/0
polymorphism (auto)
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