NM_001382508.1:c.3765T>A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001382508.1(DROSHA):c.3765T>A(p.Asn1255Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. N1255N) has been classified as Benign.
Frequency
Consequence
NM_001382508.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DROSHA | NM_001382508.1 | c.3765T>A | p.Asn1255Lys | missense_variant | Exon 33 of 36 | ENST00000344624.8 | NP_001369437.1 | |
DROSHA | NM_013235.5 | c.3765T>A | p.Asn1255Lys | missense_variant | Exon 32 of 35 | NP_037367.3 | ||
DROSHA | NM_001100412.2 | c.3654T>A | p.Asn1218Lys | missense_variant | Exon 32 of 35 | NP_001093882.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at