NM_032043.3:c.94-18T>G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_032043.3(BRIP1):c.94-18T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00575 in 1,493,736 control chromosomes in the GnomAD database, including 396 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_032043.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0283 AC: 4303AN: 152216Hom.: 196 Cov.: 32
GnomAD3 exomes AF: 0.00786 AC: 1972AN: 250732Hom.: 84 AF XY: 0.00571 AC XY: 775AN XY: 135620
GnomAD4 exome AF: 0.00318 AC: 4267AN: 1341402Hom.: 199 Cov.: 20 AF XY: 0.00272 AC XY: 1832AN XY: 673940
GnomAD4 genome AF: 0.0284 AC: 4320AN: 152334Hom.: 197 Cov.: 32 AF XY: 0.0269 AC XY: 2004AN XY: 74500
ClinVar
Submissions by phenotype
not specified Benign:5
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not provided Benign:3
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Familial cancer of breast Benign:2
This variant is considered benign. This variant is intronic and is not expected to impact mRNA splicing. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance. -
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Breast and/or ovarian cancer Benign:1
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Familial cancer of breast;C1836860:Fanconi anemia complementation group J Benign:1
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Hereditary cancer-predisposing syndrome Benign:1
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Hereditary breast ovarian cancer syndrome Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at