chr5-80654344-C-CTGGCGCCTCCCGCCCAGGT

Position:

• chr5-80654344-C-CTGGCGCCTCCCGCCCAGGT

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

The NM_000791.4(DHFR):​c.86+59_86+60insACCTGGGCGGGAGGCGCCA variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 0)
• Consequence: DHFR NM_000791.4 intron
• 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]

DHFR (HGNC:):

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
DHFR	NM_000791.4	c.86+59_86+60insACCTGGGCGGGAGGCGCCA		intron_variant		ENST00000439211.7	NP_000782.1
DHFR	NM_001290354.2	c.-21+59_-21+60insACCTGGGCGGGAGGCGCCA		intron_variant			NP_001277283.1
DHFR	NM_001290357.2	c.86+59_86+60insACCTGGGCGGGAGGCGCCA		intron_variant			NP_001277286.1
DHFR	NR_110936.2	n.580+59_580+60insACCTGGGCGGGAGGCGCCA		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
DHFR	ENST00000439211.7	c.86+59_86+60insACCTGGGCGGGAGGCGCCA		intron_variant		1	NM_000791.4	ENSP00000396308.2

Frequencies

GnomAD3 genomes Cov.: 0

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome Cov.: 0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs70991108; hg19: chr5-79950163;