NM_001713.3:c.184G>C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001713.3(BHMT):c.184G>C(p.Glu62Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000435 in 1,608,762 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001713.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BHMT | ENST00000274353.10 | c.184G>C | p.Glu62Gln | missense_variant | Exon 3 of 8 | 1 | NM_001713.3 | ENSP00000274353.5 | ||
BHMT | ENST00000524080.1 | c.166+3377G>C | intron_variant | Intron 2 of 4 | 2 | ENSP00000428240.1 | ||||
BHMT | ENST00000520703.1 | n.261G>C | non_coding_transcript_exon_variant | Exon 3 of 3 | 2 | |||||
DMGDH | ENST00000520388.5 | n.491+1065C>G | intron_variant | Intron 3 of 4 | 4 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152184Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000412 AC: 6AN: 1456578Hom.: 0 Cov.: 30 AF XY: 0.00000690 AC XY: 5AN XY: 724434
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152184Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74354
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.184G>C (p.E62Q) alteration is located in exon 3 (coding exon 3) of the BHMT gene. This alteration results from a G to C substitution at nucleotide position 184, causing the glutamic acid (E) at amino acid position 62 to be replaced by a glutamine (Q). 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