5-31409059-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001382508.1(DROSHA):c.3851A>G(p.Tyr1284Cys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. 12/21 in silico tools predict a damaging outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001382508.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DROSHA | NM_001382508.1 | c.3851A>G | p.Tyr1284Cys | missense_variant | 33/36 | ENST00000344624.8 | NP_001369437.1 | |
DROSHA | NM_013235.5 | c.3851A>G | p.Tyr1284Cys | missense_variant | 32/35 | NP_037367.3 | ||
DROSHA | NM_001100412.2 | c.3740A>G | p.Tyr1247Cys | missense_variant | 32/35 | NP_001093882.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DROSHA | ENST00000344624.8 | c.3851A>G | p.Tyr1284Cys | missense_variant | 33/36 | 5 | NM_001382508.1 | ENSP00000339845.3 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 25, 2023 | The c.3851A>G (p.Y1284C) alteration is located in exon 32 (coding exon 30) of the DROSHA gene. This alteration results from a A to G substitution at nucleotide position 3851, causing the tyrosine (Y) at amino acid position 1284 to be replaced by a cysteine (C). 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.