16-86541774-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001159377.2(MTHFSD):c.604G>C(p.Asp202His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000382 in 1,614,210 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D202V) has been classified as Uncertain significance.
Frequency
Consequence
NM_001159377.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000243 AC: 37AN: 152234Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000257 AC: 64AN: 249352Hom.: 0 AF XY: 0.000222 AC XY: 30AN XY: 135284
GnomAD4 exome AF: 0.000396 AC: 579AN: 1461858Hom.: 0 Cov.: 30 AF XY: 0.000374 AC XY: 272AN XY: 727222
GnomAD4 genome AF: 0.000243 AC: 37AN: 152352Hom.: 0 Cov.: 33 AF XY: 0.000174 AC XY: 13AN XY: 74504
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.604G>C (p.D202H) alteration is located in exon 7 (coding exon 7) of the MTHFSD gene. This alteration results from a G to C substitution at nucleotide position 604, causing the aspartic acid (D) at amino acid position 202 to be replaced by a histidine (H). 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