rs2229910
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP7BS2
The NM_001012338.3(NTRK3):c.1488C>T(p.Ala496=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000484 in 1,611,946 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. Synonymous variant affecting the same amino acid position (i.e. A496A) has been classified as Benign.
Frequency
Consequence
NM_001012338.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NTRK3 | NM_001012338.3 | c.1488C>T | p.Ala496= | synonymous_variant | 14/20 | ENST00000629765.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NTRK3 | ENST00000629765.3 | c.1488C>T | p.Ala496= | synonymous_variant | 14/20 | 1 | NM_001012338.3 |
Frequencies
GnomAD3 genomes AF: 0.0000199 AC: 3AN: 150858Hom.: 0 Cov.: 27
GnomAD3 exomes AF: 0.0000682 AC: 17AN: 249410Hom.: 0 AF XY: 0.0000965 AC XY: 13AN XY: 134772
GnomAD4 exome AF: 0.0000513 AC: 75AN: 1460970Hom.: 0 Cov.: 43 AF XY: 0.0000619 AC XY: 45AN XY: 726676
GnomAD4 genome AF: 0.0000199 AC: 3AN: 150976Hom.: 0 Cov.: 27 AF XY: 0.0000407 AC XY: 3AN XY: 73670
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at