rs752702755
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_017755.6(NSUN2):c.2283G>T(p.Ala761Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,126 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_017755.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NSUN2 | NM_017755.6 | c.2283G>T | p.Ala761Ala | synonymous_variant | Exon 19 of 19 | ENST00000264670.11 | NP_060225.4 | |
NSUN2 | NM_001193455.2 | c.2178G>T | p.Ala726Ala | synonymous_variant | Exon 18 of 18 | NP_001180384.1 | ||
NSUN2 | NR_037947.2 | n.2263G>T | non_coding_transcript_exon_variant | Exon 18 of 18 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461126Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726872
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.