chr17-9772896-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001105571.3(DHRS7C):c.598G>A(p.Gly200Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000335 in 1,613,842 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001105571.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DHRS7C | ENST00000571134.2 | c.598G>A | p.Gly200Ser | missense_variant | Exon 5 of 6 | 1 | NM_001105571.3 | ENSP00000459579.1 | ||
DHRS7C | ENST00000330255.9 | c.601G>A | p.Gly201Ser | missense_variant | Exon 5 of 6 | 1 | ENSP00000327975.4 | |||
DHRS7C | ENST00000571771.5 | c.191-1200G>A | intron_variant | Intron 2 of 2 | 3 | ENSP00000461902.2 | ||||
ENSG00000282882 | ENST00000634974.2 | n.146+8565C>T | intron_variant | Intron 1 of 3 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152116Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000360 AC: 9AN: 249698Hom.: 0 AF XY: 0.0000296 AC XY: 4AN XY: 135156
GnomAD4 exome AF: 0.0000342 AC: 50AN: 1461608Hom.: 1 Cov.: 31 AF XY: 0.0000440 AC XY: 32AN XY: 727094
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152234Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74426
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.601G>A (p.G201S) alteration is located in exon 5 (coding exon 5) of the DHRS7C gene. This alteration results from a G to A substitution at nucleotide position 601, causing the glycine (G) at amino acid position 201 to be replaced by a serine (S). 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