chr16-23613908-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBP6_Very_Strong
The NM_024675.4(PALB2):c.3201+96G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000149 in 877,440 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_024675.4 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: 0.000454 AC: 69AN: 152094Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000814 AC: 59AN: 725228Hom.: 1 AF XY: 0.0000816 AC XY: 31AN XY: 379984
GnomAD4 genome AF: 0.000473 AC: 72AN: 152212Hom.: 0 Cov.: 32 AF XY: 0.000470 AC XY: 35AN XY: 74414
ClinVar
Submissions by phenotype
not provided Benign:1
- -
Familial cancer of breast Benign:1
Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitter to LOVD: Marc Tischkowitz. -
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