chr19-10805981-C-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001005361.3(DNM2):c.1545+14C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000574 in 1,614,182 control chromosomes in the GnomAD database, including 7 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001005361.3 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: 0.00323 AC: 491AN: 152218Hom.: 3 Cov.: 32
GnomAD3 exomes AF: 0.000804 AC: 202AN: 251180Hom.: 0 AF XY: 0.000493 AC XY: 67AN XY: 135800
GnomAD4 exome AF: 0.000298 AC: 436AN: 1461846Hom.: 4 Cov.: 32 AF XY: 0.000259 AC XY: 188AN XY: 727224
GnomAD4 genome AF: 0.00322 AC: 491AN: 152336Hom.: 3 Cov.: 32 AF XY: 0.00290 AC XY: 216AN XY: 74494
ClinVar
Submissions by phenotype
not specified Benign:2
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
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not provided Benign:2
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Charcot-Marie-Tooth disease dominant intermediate B Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at