17-9772877-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001105571.3(DHRS7C):c.617G>T(p.Arg206Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000434 in 1,613,906 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 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 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DHRS7C | ENST00000571134.2 | c.617G>T | p.Arg206Leu | missense_variant | Exon 5 of 6 | 1 | NM_001105571.3 | ENSP00000459579.1 | ||
DHRS7C | ENST00000330255.9 | c.620G>T | p.Arg207Leu | missense_variant | Exon 5 of 6 | 1 | ENSP00000327975.4 | |||
DHRS7C | ENST00000571771.5 | c.191-1181G>T | intron_variant | Intron 2 of 2 | 3 | ENSP00000461902.2 | ||||
ENSG00000282882 | ENST00000634974.2 | n.146+8546C>A | intron_variant | Intron 1 of 3 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152132Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 249850Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135238
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461656Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727108
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152250Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74430
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.620G>T (p.R207L) alteration is located in exon 5 (coding exon 5) of the DHRS7C gene. This alteration results from a G to T substitution at nucleotide position 620, causing the arginine (R) at amino acid position 207 to be replaced by a leucine (L). 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