chr8-127738294-A-G
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBS1_SupportingBS2
The NM_002467.6(MYC):āc.77A>Gā(p.Asn26Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0319 in 1,610,196 control chromosomes in the GnomAD database, including 1,012 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ā ). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_002467.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0240 AC: 3651AN: 152178Hom.: 72 Cov.: 33
GnomAD3 exomes AF: 0.0230 AC: 5750AN: 249536Hom.: 91 AF XY: 0.0231 AC XY: 3117AN XY: 134904
GnomAD4 exome AF: 0.0327 AC: 47736AN: 1457900Hom.: 940 Cov.: 32 AF XY: 0.0318 AC XY: 23053AN XY: 724576
GnomAD4 genome AF: 0.0240 AC: 3648AN: 152296Hom.: 72 Cov.: 33 AF XY: 0.0222 AC XY: 1653AN XY: 74458
ClinVar
Submissions by phenotype
Classic Hodgkin lymphoma Uncertain:1
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not provided Uncertain:1
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MYC-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