2-214792458-TAA-T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP6BA1
The NM_000465.4(BARD1):c.216-15_216-14delTT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0839 in 1,359,760 control chromosomes in the GnomAD database, including 507 homozygotes. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_000465.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0617 AC: 7844AN: 127182Hom.: 217 Cov.: 0
GnomAD3 exomes AF: 0.111 AC: 10714AN: 96390Hom.: 45 AF XY: 0.114 AC XY: 5985AN XY: 52578
GnomAD4 exome AF: 0.0862 AC: 106209AN: 1232548Hom.: 284 AF XY: 0.0862 AC XY: 52636AN XY: 610506
GnomAD4 genome AF: 0.0618 AC: 7861AN: 127212Hom.: 223 Cov.: 0 AF XY: 0.0624 AC XY: 3815AN XY: 61134
ClinVar
Submissions by phenotype
Hereditary cancer-predisposing syndrome Benign:2
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This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Breast neoplasm Uncertain:1
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not specified Benign:1
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not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at