19-48944491-GGA-GGAGA

Position:

• chr19-48944491-GGA-GGAGA

Variant summary

Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2

The NM_014475.4(DHDH):​c.881_882dupAG​(p.Cys295fs) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 31)
• Consequence: DHDH NM_014475.4 frameshift
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 2.61

Genes affected

DHDH (HGNC:17887): (dihydrodiol dehydrogenase) This gene encodes an enzyme that belongs to the family of dihydrodiol dehydrogenases, which exist in multiple forms in mammalian tissues and are involved in the metabolism of xenobiotics and sugars. These enzymes catalyze the NADP1-linked oxidation of transdihydrodiols of aromatic hydrocarbons to corresponding catechols. This enzyme is a dimeric dihydrodiol dehydrogenase, and it differs from monomeric dihydrodiol dehydrogenases in its high substrate specificity for trans-dihydrodiols of aromatic hydrocarbons in the oxidative direction. [provided by RefSeq, Jul 2008]

ACMG classification

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
DHDH	NM_014475.4	c.881_882dupAG	p.Cys295fs	frameshift_variant	6/7	ENST00000221403.7	NP_055290.1
DHDH	XM_017026598.2	c.632_633dupAG	p.Cys212fs	frameshift_variant	6/7		XP_016882087.1
DHDH	XM_005258748.5	c.545_546dupAG	p.Cys183fs	frameshift_variant	5/6		XP_005258805.1
DHDH	XM_047438617.1	c.*84_*85dupAG		3_prime_UTR_variant	5/5		XP_047294573.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
DHDH	ENST00000221403.7	c.881_882dupAG	p.Cys295fs	frameshift_variant	6/7	1	NM_014475.4	ENSP00000221403.2

Frequencies

GnomAD3 genomes Cov.: 31

GnomAD4 exome Cov.: 31

GnomAD4 genome Cov.: 31

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: rs3835153; hg19: chr19-49447748;