rs70991108
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000791.4(DHFR):c.86+59_86+60insACCTGGGCGGGACGCGCGA variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000108 in 1,568,280 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.000039 ( 0 hom., cov: 0)
Exomes 𝑓: 0.0000078 ( 0 hom. )
Consequence
DHFR
NM_000791.4 intron
NM_000791.4 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.762
Genes affected
DHFR (HGNC:2861): (dihydrofolate reductase) Dihydrofolate reductase converts dihydrofolate into tetrahydrofolate, a methyl group shuttle required for the de novo synthesis of purines, thymidylic acid, and certain amino acids. While the functional dihydrofolate reductase gene has been mapped to chromosome 5, multiple intronless processed pseudogenes or dihydrofolate reductase-like genes have been identified on separate chromosomes. Dihydrofolate reductase deficiency has been linked to megaloblastic anemia. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DHFR | NM_000791.4 | c.86+59_86+60insACCTGGGCGGGACGCGCGA | intron_variant | ENST00000439211.7 | NP_000782.1 | |||
DHFR | NM_001290354.2 | c.-21+59_-21+60insACCTGGGCGGGACGCGCGA | intron_variant | NP_001277283.1 | ||||
DHFR | NM_001290357.2 | c.86+59_86+60insACCTGGGCGGGACGCGCGA | intron_variant | NP_001277286.1 | ||||
DHFR | NR_110936.2 | n.580+59_580+60insACCTGGGCGGGACGCGCGA | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DHFR | ENST00000439211.7 | c.86+59_86+60insACCTGGGCGGGACGCGCGA | intron_variant | 1 | NM_000791.4 | ENSP00000396308.2 |
Frequencies
GnomAD3 genomes AF: 0.0000395 AC: 6AN: 152008Hom.: 0 Cov.: 0
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GnomAD4 exome AF: 0.00000777 AC: 11AN: 1416272Hom.: 0 AF XY: 0.00000709 AC XY: 5AN XY: 705630
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GnomAD4 genome AF: 0.0000395 AC: 6AN: 152008Hom.: 0 Cov.: 0 AF XY: 0.0000269 AC XY: 2AN XY: 74244
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at