rs8923
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_006441.4(MTHFS):c.604A>G(p.Thr202Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0852 in 1,614,148 control chromosomes in the GnomAD database, including 6,373 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T202I) has been classified as Uncertain significance.
Frequency
Consequence
NM_006441.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MTHFS | NM_006441.4 | c.604A>G | p.Thr202Ala | missense_variant | 3/3 | ENST00000258874.4 | |
ST20-MTHFS | NM_001199760.2 | c.532A>G | p.Thr178Ala | missense_variant | 4/4 | ||
MTHFS | NM_001199758.1 | c.433A>G | p.Thr145Ala | missense_variant | 3/3 | ||
MTHFS | NR_037654.2 | n.711A>G | non_coding_transcript_exon_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MTHFS | ENST00000258874.4 | c.604A>G | p.Thr202Ala | missense_variant | 3/3 | 1 | NM_006441.4 | P1 | |
MTHFS | ENST00000559722.2 | c.691A>G | p.Thr231Ala | missense_variant | 3/3 | 2 | |||
MTHFS | ENST00000560261.1 | c.112A>G | p.Thr38Ala | missense_variant, NMD_transcript_variant | 1/4 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0746 AC: 11351AN: 152178Hom.: 478 Cov.: 32
GnomAD3 exomes AF: 0.0666 AC: 16739AN: 251310Hom.: 717 AF XY: 0.0674 AC XY: 9159AN XY: 135816
GnomAD4 exome AF: 0.0863 AC: 126177AN: 1461852Hom.: 5895 Cov.: 31 AF XY: 0.0848 AC XY: 61642AN XY: 727234
GnomAD4 genome ? AF: 0.0746 AC: 11358AN: 152296Hom.: 478 Cov.: 32 AF XY: 0.0712 AC XY: 5305AN XY: 74472
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 30, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at