rs4645959
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 0P and 1B. BS2_Supporting
The NM_002467.6(MYC):āc.77A>Cā(p.Asn26Thr) variant causes a missense change. The variant allele was found at a frequency of 0.000013 in 1,610,100 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. N26S) has been classified as Likely benign.
Frequency
Consequence
NM_002467.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYC | NM_002467.6 | c.77A>C | p.Asn26Thr | missense_variant | 2/3 | ENST00000621592.8 | |
MYC | NM_001354870.1 | c.74A>C | p.Asn25Thr | missense_variant | 2/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYC | ENST00000621592.8 | c.77A>C | p.Asn26Thr | missense_variant | 2/3 | 1 | NM_002467.6 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000986 AC: 15AN: 152184Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 249536Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 134904
GnomAD4 exome AF: 0.00000412 AC: 6AN: 1457916Hom.: 0 Cov.: 32 AF XY: 0.00000414 AC XY: 3AN XY: 724588
GnomAD4 genome ? AF: 0.0000986 AC: 15AN: 152184Hom.: 0 Cov.: 33 AF XY: 0.000121 AC XY: 9AN XY: 74334
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at