6-6006731-C-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_016588.3(NRN1):c.19G>A(p.Gly7Ser) variant causes a missense change. The variant allele was found at a frequency of 0.000591 in 1,614,120 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G7R) has been classified as Uncertain significance.
Frequency
Consequence
NM_016588.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00317 AC: 482AN: 152184Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000775 AC: 195AN: 251480Hom.: 0 AF XY: 0.000522 AC XY: 71AN XY: 135920
GnomAD4 exome AF: 0.000323 AC: 472AN: 1461818Hom.: 4 Cov.: 31 AF XY: 0.000290 AC XY: 211AN XY: 727226
GnomAD4 genome AF: 0.00316 AC: 482AN: 152302Hom.: 0 Cov.: 32 AF XY: 0.00297 AC XY: 221AN XY: 74480
ClinVar
Submissions by phenotype
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at