chr16-15694184-G-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BS1BS2
The NM_017668.3(NDE1):c.723G>T(p.Gly241Gly) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000679 in 1,612,996 control chromosomes in the GnomAD database, including 20 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_017668.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000388 AC: 59AN: 152164Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.00133 AC: 332AN: 250524Hom.: 4 AF XY: 0.00173 AC XY: 235AN XY: 135538
GnomAD4 exome AF: 0.000711 AC: 1038AN: 1460714Hom.: 19 Cov.: 32 AF XY: 0.00102 AC XY: 743AN XY: 726676
GnomAD4 genome AF: 0.000381 AC: 58AN: 152282Hom.: 1 Cov.: 32 AF XY: 0.000604 AC XY: 45AN XY: 74460
ClinVar
Submissions by phenotype
not provided Benign:3
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NDE1: BP4, BP7, BS1, BS2 -
not specified Uncertain:1
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NDE1-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