NM_007194.4:c.1462-20T>C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBP6_Very_Strong
The NM_007194.4(CHEK2):c.1462-20T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000183 in 1,417,290 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_007194.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152242Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000300 AC: 7AN: 233050Hom.: 0 AF XY: 0.0000390 AC XY: 5AN XY: 128256
GnomAD4 exome AF: 0.0000182 AC: 23AN: 1265048Hom.: 0 Cov.: 18 AF XY: 0.0000156 AC XY: 10AN XY: 639146
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152242Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74396
ClinVar
Submissions by phenotype
Familial cancer of breast Benign:3
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This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing. -
Hereditary cancer-predisposing syndrome Benign:2
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not provided 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