9-977348-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_021240.4(DMRT3):c.347C>G(p.Ser116Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000092 in 1,086,450 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_021240.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DMRT3 | NM_021240.4 | c.347C>G | p.Ser116Trp | missense_variant | 1/2 | ENST00000190165.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DMRT3 | ENST00000190165.3 | c.347C>G | p.Ser116Trp | missense_variant | 1/2 | 1 | NM_021240.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00 AC: 0AN: 150886Hom.: 0 Cov.: 33 FAILED QC
GnomAD4 exome AF: 9.20e-7 AC: 1AN: 1086450Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 518118
GnomAD4 genome ? Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 150886Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 73672
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 04, 2024 | The c.347C>G (p.S116W) alteration is located in exon 1 (coding exon 1) of the DMRT3 gene. This alteration results from a C to G substitution at nucleotide position 347, causing the serine (S) at amino acid position 116 to be replaced by a tryptophan (W). 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
Publications
No publications associated with this variant yet.