chr7-2542818-T-C

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

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -1.21
Variant links:
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

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
BRAT1NM_152743.4 linkc.923+386A>G intron_variant Intron 6 of 13 ENST00000340611.9 NP_689956.2 Q6PJG6-1

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
BRAT1ENST00000340611.9 linkc.923+386A>G intron_variant Intron 6 of 13 1 NM_152743.4 ENSP00000339637.4 Q6PJG6-1

Frequencies

GnomAD3 genomes
AF:
0.154
AC:
23340
AN:
151854
Hom.:
1955
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.218
Gnomad AMI
AF:
0.327
Gnomad AMR
AF:
0.144
Gnomad ASJ
AF:
0.130
Gnomad EAS
AF:
0.0912
Gnomad SAS
AF:
0.0686
Gnomad FIN
AF:
0.190
Gnomad MID
AF:
0.171
Gnomad NFE
AF:
0.121
Gnomad OTH
AF:
0.154
GnomAD4 exome
AF:
0.119
AC:
2561
AN:
21510
Hom.:
205
Cov.:
0
AF XY:
0.113
AC XY:
1253
AN XY:
11126
show subpopulations
Gnomad4 AFR exome
AF:
0.204
AC:
82
AN:
402
Gnomad4 AMR exome
AF:
0.138
AC:
262
AN:
1892
Gnomad4 ASJ exome
AF:
0.137
AC:
65
AN:
476
Gnomad4 EAS exome
AF:
0.145
AC:
68
AN:
470
Gnomad4 SAS exome
AF:
0.0550
AC:
115
AN:
2092
Gnomad4 FIN exome
AF:
0.152
AC:
133
AN:
876
Gnomad4 NFE exome
AF:
0.113
AC:
1393
AN:
12364
Gnomad4 Remaining exome
AF:
0.134
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:
23368
AN:
151972
Hom.:
1958
Cov.:
32
AF XY:
0.154
AC XY:
11455
AN XY:
74290
show subpopulations
Gnomad4 AFR
AF:
0.218
AC:
0.218199
AN:
0.218199
Gnomad4 AMR
AF:
0.144
AC:
0.144073
AN:
0.144073
Gnomad4 ASJ
AF:
0.130
AC:
0.129971
AN:
0.129971
Gnomad4 EAS
AF:
0.0914
AC:
0.0914041
AN:
0.0914041
Gnomad4 SAS
AF:
0.0695
AC:
0.0694732
AN:
0.0694732
Gnomad4 FIN
AF:
0.190
AC:
0.189567
AN:
0.189567
Gnomad4 NFE
AF:
0.121
AC:
0.120559
AN:
0.120559
Gnomad4 OTH
AF:
0.153
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:
0.145
Hom.:
390
Bravo
AF:
0.157
Asia WGS
AF:
0.0980
AC:
340
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.92
CADD
Benign
1.9
DANN
Benign
0.42
RBP_binding_hub_radar
0.0
RBP_regulation_power_radar
1.1
Mutation Taster
=100/0
polymorphism (auto)

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.010
Details are displayed if max score is > 0.2

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

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs6972204; hg19: chr7-2582452; COSMIC: COSV61394517; COSMIC: COSV61394517; API