rs80356677
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM1PM2PM5PP3_Moderate
The ENST00000524377.7(NTRK1):c.2020G>A(p.Asp674Asn) variant causes a missense change. 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D674Y) has been classified as Likely pathogenic.
Frequency
Consequence
ENST00000524377.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NTRK1 | NM_002529.4 | c.2020G>A | p.Asp674Asn | missense_variant | 15/17 | ENST00000524377.7 | NP_002520.2 | |
NTRK1 | NM_001012331.2 | c.2002G>A | p.Asp668Asn | missense_variant | 14/16 | NP_001012331.1 | ||
NTRK1 | NM_001007792.1 | c.1912G>A | p.Asp638Asn | missense_variant | 15/17 | NP_001007793.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NTRK1 | ENST00000524377.7 | c.2020G>A | p.Asp674Asn | missense_variant | 15/17 | 1 | NM_002529.4 | ENSP00000431418 | P4 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 31
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.