NM_203281.3:c.343C>A
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_203281.3(BMX):c.343C>A(p.His115Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000413 in 1,209,589 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 2 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. 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. H115Y) has been classified as Uncertain significance.
Frequency
Consequence
NM_203281.3 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BMX | NM_203281.3 | c.343C>A | p.His115Asn | missense_variant | Exon 5 of 19 | ENST00000348343.11 | NP_975010.1 | |
BMX | NM_001721.7 | c.343C>A | p.His115Asn | missense_variant | Exon 5 of 19 | NP_001712.1 | ||
BMX | NM_001320866.2 | c.343C>A | p.His115Asn | missense_variant | Exon 5 of 19 | NP_001307795.1 | ||
BMX | XM_017029752.3 | c.343C>A | p.His115Asn | missense_variant | Exon 5 of 16 | XP_016885241.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000887 AC: 1AN: 112741Hom.: 0 Cov.: 23 show subpopulations
GnomAD2 exomes AF: 0.00000547 AC: 1AN: 182911 AF XY: 0.0000148 show subpopulations
GnomAD4 exome AF: 0.00000365 AC: 4AN: 1096848Hom.: 0 Cov.: 30 AF XY: 0.00000276 AC XY: 1AN XY: 362602 show subpopulations
GnomAD4 genome AF: 0.00000887 AC: 1AN: 112741Hom.: 0 Cov.: 23 AF XY: 0.0000286 AC XY: 1AN XY: 34907 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at