chr17-61849272-TA-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP6_Very_Strong
The NM_032043.3(BRIP1):c.380-17delT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000381 in 1,602,074 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_032043.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000395 AC: 6AN: 151874Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000220 AC: 53AN: 240610Hom.: 0 AF XY: 0.000115 AC XY: 15AN XY: 130390
GnomAD4 exome AF: 0.0000379 AC: 55AN: 1450200Hom.: 0 Cov.: 30 AF XY: 0.0000208 AC XY: 15AN XY: 721430
GnomAD4 genome AF: 0.0000395 AC: 6AN: 151874Hom.: 0 Cov.: 32 AF XY: 0.0000270 AC XY: 2AN XY: 74188
ClinVar
Submissions by phenotype
not specified Benign:1
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Familial cancer of breast;C1836860:Fanconi anemia complementation group J Benign:1
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Familial cancer of breast Benign:1
This variant is considered benign. This variant is intronic and is not expected to impact mRNA splicing. -
Hereditary cancer-predisposing syndrome Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at