3-169779051-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_018657.5(MYNN):āc.550A>Gā(p.Lys184Glu) variant causes a missense change. The variant allele was found at a frequency of 0.0000217 in 1,614,004 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. K184T) has been classified as Uncertain significance.
Frequency
Consequence
NM_018657.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYNN | NM_018657.5 | c.550A>G | p.Lys184Glu | missense_variant | 3/8 | ENST00000349841.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYNN | ENST00000349841.10 | c.550A>G | p.Lys184Glu | missense_variant | 3/8 | 1 | NM_018657.5 | P1 | |
ENST00000602342.1 | n.1284T>C | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152250Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251062Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135830
GnomAD4 exome AF: 0.0000219 AC: 32AN: 1461754Hom.: 0 Cov.: 31 AF XY: 0.0000316 AC XY: 23AN XY: 727152
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152250Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74384
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 16, 2023 | The c.550A>G (p.K184E) alteration is located in exon 4 (coding exon 2) of the MYNN gene. This alteration results from a A to G substitution at nucleotide position 550, causing the lysine (K) at amino acid position 184 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at