14-100851974-C-G
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BA1
The NR_046473.1(MEG3):n.7358C>G variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.301 in 194,118 control chromosomes in the GnomAD database, including 10,139 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NR_046473.1 non_coding_transcript_exon
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.292 AC: 44376AN: 152034Hom.: 7532 Cov.: 32
GnomAD4 exome AF: 0.335 AC: 14059AN: 41966Hom.: 2612 Cov.: 0 AF XY: 0.336 AC XY: 7686AN XY: 22890
GnomAD4 genome AF: 0.292 AC: 44376AN: 152152Hom.: 7527 Cov.: 32 AF XY: 0.298 AC XY: 22180AN XY: 74360
ClinVar
Submissions by phenotype
MEG3-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at