NM_032043.3:c.*2815_*2816insAAAAAAAGAAA
Variant summary
Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BS2
The NM_032043.3(BRIP1):c.*2815_*2816insAAAAAAAGAAA variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. It is difficult to determine the true allele frequency of this variant because it is of type INS_BIG, and the frequency of such variant types in population databases may be underestimated and unreliable. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_032043.3 3_prime_UTR
Scores
Clinical Significance
Conservation
Publications
- 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
Our verdict: Likely_benign. The variant received -4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BRIP1 | ENST00000259008.7 | c.*2815_*2816insAAAAAAAGAAA | 3_prime_UTR_variant | Exon 20 of 20 | 1 | NM_032043.3 | ENSP00000259008.2 | |||
BRIP1 | ENST00000682755.1 | c.*2815_*2816insAAAAAAAGAAA | 3_prime_UTR_variant | Exon 18 of 18 | ENSP00000507660.1 |
Frequencies
GnomAD3 genomes AF: 0.000153 AC: 19AN: 124086Hom.: 3 Cov.: 0 show subpopulations
GnomAD4 genome AF: 0.000153 AC: 19AN: 124086Hom.: 3 Cov.: 0 AF XY: 0.000222 AC XY: 13AN XY: 58542 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at