rs13049
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_018946.4(NANS):c.153T>A(p.Ala51=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign 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. A51A) has been classified as Benign.
Frequency
Consequence
NM_018946.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NANS | NM_018946.4 | c.153T>A | p.Ala51= | synonymous_variant | 2/6 | ENST00000210444.6 | |
TRIM14 | XM_047424162.1 | c.*29-24989A>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NANS | ENST00000210444.6 | c.153T>A | p.Ala51= | synonymous_variant | 2/6 | 1 | NM_018946.4 | P1 | |
NANS | ENST00000480925.1 | n.192T>A | non_coding_transcript_exon_variant | 2/2 | 2 | ||||
NANS | ENST00000495319.1 | n.194T>A | non_coding_transcript_exon_variant | 2/5 | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome Cov.: 52
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at