rs6337
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_ModerateBP6_ModerateBP7
The NM_002529.4(NTRK1):c.1887C>A(p.Ala629=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,568 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 (★). Synonymous variant affecting the same amino acid position (i.e. A629A) 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.1887C>A | p.Ala629= | synonymous_variant | 15/17 | ENST00000524377.7 | |
NTRK1 | NM_001012331.2 | c.1869C>A | p.Ala623= | synonymous_variant | 14/16 | ||
NTRK1 | NM_001007792.1 | c.1779C>A | p.Ala593= | synonymous_variant | 15/17 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NTRK1 | ENST00000524377.7 | c.1887C>A | p.Ala629= | synonymous_variant | 15/17 | 1 | NM_002529.4 | P4 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461568Hom.: 0 Cov.: 70 AF XY: 0.00000138 AC XY: 1AN XY: 727046
GnomAD4 genome ? Cov.: 31
ClinVar
Submissions by phenotype
Hereditary insensitivity to pain with anhidrosis Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | May 06, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.