chr2-214767468-G-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000465.4(BARD1):c.1568+14C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.345 in 1,606,412 control chromosomes in the GnomAD database, including 96,897 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_000465.4 intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.351 AC: 53226AN: 151760Hom.: 9506 Cov.: 32
GnomAD3 exomes AF: 0.357 AC: 89442AN: 250632Hom.: 16340 AF XY: 0.359 AC XY: 48642AN XY: 135468
GnomAD4 exome AF: 0.344 AC: 500769AN: 1454534Hom.: 87377 Cov.: 32 AF XY: 0.346 AC XY: 250816AN XY: 724016
GnomAD4 genome AF: 0.351 AC: 53277AN: 151878Hom.: 9520 Cov.: 32 AF XY: 0.356 AC XY: 26462AN XY: 74232
ClinVar
Submissions by phenotype
Familial cancer of breast Benign:3
- -
- -
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. -
not specified Benign:2
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency -
- -
not provided Benign:2
- -
- -
Hereditary cancer-predisposing syndrome Benign:1
- -
Hereditary breast ovarian cancer syndrome Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at