chr10-115315665-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_207303.4(ATRNL1):c.2966G>T(p.Ser989Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign 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. S989N) has been classified as Benign.
Frequency
Consequence
NM_207303.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ATRNL1 | NM_207303.4 | c.2966G>T | p.Ser989Ile | missense_variant | 18/29 | ENST00000355044.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ATRNL1 | ENST00000355044.8 | c.2966G>T | p.Ser989Ile | missense_variant | 18/29 | 1 | NM_207303.4 | P1 | |
ATRNL1 | ENST00000526373.1 | c.356G>T | p.Ser119Ile | missense_variant | 3/6 | 5 | |||
ATRNL1 | ENST00000534530.5 | n.219G>T | non_coding_transcript_exon_variant | 2/6 | 4 | ||||
ATRNL1 | ENST00000650603.1 | c.2858G>T | p.Ser953Ile | missense_variant, NMD_transcript_variant | 18/30 |
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome Cov.: 55
GnomAD4 genome Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at