rs6338
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_002529.4(NTRK1):c.1860C>A(p.Gly620=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,460,864 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. G620G) has been classified as Benign.
Frequency
Consequence
NM_002529.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NTRK1 | NM_002529.4 | c.1860C>A | p.Gly620= | synonymous_variant | 15/17 | ENST00000524377.7 | |
NTRK1 | NM_001012331.2 | c.1842C>A | p.Gly614= | synonymous_variant | 14/16 | ||
NTRK1 | NM_001007792.1 | c.1752C>A | p.Gly584= | synonymous_variant | 15/17 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NTRK1 | ENST00000524377.7 | c.1860C>A | p.Gly620= | synonymous_variant | 15/17 | 1 | NM_002529.4 | P4 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000803 AC: 2AN: 248998Hom.: 0 AF XY: 0.00000742 AC XY: 1AN XY: 134844
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460864Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 726718
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at