15-73122579-A-G
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_002499.4(NEO1):c.503A>G(p.Asn168Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000253 in 1,614,064 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_002499.4 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: 0.000217 AC: 33AN: 152202Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000326 AC: 82AN: 251400Hom.: 1 AF XY: 0.000361 AC XY: 49AN XY: 135864
GnomAD4 exome AF: 0.000257 AC: 376AN: 1461862Hom.: 3 Cov.: 31 AF XY: 0.000297 AC XY: 216AN XY: 727236
GnomAD4 genome AF: 0.000217 AC: 33AN: 152202Hom.: 0 Cov.: 31 AF XY: 0.000161 AC XY: 12AN XY: 74368
ClinVar
Submissions by phenotype
not specified Benign:1
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at