rs759637817
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4BP6_ModerateBP7
The NM_002529.4(NTRK1):c.2281C>A(p.Arg761=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000689 in 1,450,648 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_002529.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NTRK1 | NM_002529.4 | c.2281C>A | p.Arg761= | synonymous_variant | 17/17 | ENST00000524377.7 | |
NTRK1 | NM_001012331.2 | c.2263C>A | p.Arg755= | synonymous_variant | 16/16 | ||
NTRK1 | NM_001007792.1 | c.2173C>A | p.Arg725= | synonymous_variant | 17/17 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NTRK1 | ENST00000524377.7 | c.2281C>A | p.Arg761= | synonymous_variant | 17/17 | 1 | NM_002529.4 | P4 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 6.89e-7 AC: 1AN: 1450648Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 720728
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Hereditary insensitivity to pain with anhidrosis Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Aug 23, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.