17-61680480-C-CTTTCTTTT
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Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BS1BS2
The NM_032043.3(BRIP1):c.*2815_*2816insAAAAGAAA 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 0.012 ( 46 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
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]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -8 ACMG points.
BS1
Variant frequency is greater than expected in population sas. gnomad4 allele frequency = 0.0122 (1517/124002) while in subpopulation SAS AF= 0.0322 (127/3942). AF 95% confidence interval is 0.0277. There are 46 homozygotes in gnomad4. There are 731 alleles in male gnomad4 subpopulation. Median coverage is 0. This position pass quality control queck.
BS2
High Homozygotes in GnomAd4 at 46 AD,AR gene
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BRIP1 | ENST00000259008 | c.*2815_*2816insAAAAGAAA | 3_prime_UTR_variant | 20/20 | 1 | NM_032043.3 | ENSP00000259008.2 | |||
BRIP1 | ENST00000682755 | c.*2815_*2816insAAAAGAAA | 3_prime_UTR_variant | 18/18 | ENSP00000507660.1 |
Frequencies
GnomAD3 genomes AF: 0.0123 AC: 1521AN: 124026Hom.: 47 Cov.: 0
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.0122 AC: 1517AN: 124002Hom.: 46 Cov.: 0 AF XY: 0.0125 AC XY: 731AN XY: 58524
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ClinVar
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Find out detailed SpliceAI scores and Pangolin per-transcript scores at