NM_032043.3:c.*2815_*2816insAAAAAGAAA
Variant summary
Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BS2
The NM_032043.3(BRIP1):c.*2815_*2816insAAAAAGAAA variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.00024 ( 3 hom., cov: 0)
Consequence
BRIP1
NM_032043.3 3_prime_UTR
NM_032043.3 3_prime_UTR
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.0550
Publications
0 publications found
Genes affected
BRIP1 (HGNC:20473): (BRCA1 interacting helicase 1) The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008]
BRIP1 Gene-Disease associations (from GenCC):
- familial ovarian cancerInheritance: AD Classification: DEFINITIVE Submitted by: ClinGen
- Fanconi anemiaInheritance: AR Classification: DEFINITIVE, SUPPORTIVE Submitted by: Orphanet, Illumina
- Fanconi anemia complementation group JInheritance: AR Classification: DEFINITIVE, STRONG Submitted by: G2P, ClinGen, Ambry Genetics, Labcorp Genetics (formerly Invitae)
- hereditary breast carcinomaInheritance: AD Classification: STRONG, LIMITED, NO_KNOWN Submitted by: ClinGen, Genomics England PanelApp, Ambry Genetics, Labcorp Genetics (formerly Invitae)
- colorectal adenomaInheritance: AD Classification: LIMITED Submitted by: Ambry Genetics
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ACMG classification
Classification was made for transcript
Our verdict: Likely_benign. The variant received -4 ACMG points.
BS2
High Homozygotes in GnomAd4 at 3 AD,AR gene
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BRIP1 | ENST00000259008.7 | c.*2815_*2816insAAAAAGAAA | 3_prime_UTR_variant | Exon 20 of 20 | 1 | NM_032043.3 | ENSP00000259008.2 | |||
BRIP1 | ENST00000682755.1 | c.*2815_*2816insAAAAAGAAA | 3_prime_UTR_variant | Exon 18 of 18 | ENSP00000507660.1 |
Frequencies
GnomAD3 genomes AF: 0.000250 AC: 31AN: 124094Hom.: 3 Cov.: 0 show subpopulations
GnomAD3 genomes
AF:
AC:
31
AN:
124094
Hom.:
Cov.:
0
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: 0.000242 AC: 30AN: 124070Hom.: 3 Cov.: 0 AF XY: 0.000256 AC XY: 15AN XY: 58554 show subpopulations
GnomAD4 genome
AF:
AC:
30
AN:
124070
Hom.:
Cov.:
0
AF XY:
AC XY:
15
AN XY:
58554
show subpopulations
African (AFR)
AF:
AC:
4
AN:
31738
American (AMR)
AF:
AC:
0
AN:
11378
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
3230
East Asian (EAS)
AF:
AC:
5
AN:
4138
South Asian (SAS)
AF:
AC:
5
AN:
3944
European-Finnish (FIN)
AF:
AC:
2
AN:
5350
Middle Eastern (MID)
AF:
AC:
0
AN:
200
European-Non Finnish (NFE)
AF:
AC:
14
AN:
61622
Other (OTH)
AF:
AC:
0
AN:
1626
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.403
Heterozygous variant carriers
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0.95
Allele balance
Age Distribution
Genome Het
Genome Hom
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Age
Alfa
AF:
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ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
PhyloP100
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
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