6-117329351-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001378902.1(ROS1):c.5326A>C(p.Thr1776Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000581 in 1,531,544 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/23 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001378902.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ROS1 | NM_001378902.1 | c.5326A>C | p.Thr1776Pro | missense_variant | Exon 33 of 44 | ENST00000368507.8 | NP_001365831.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ROS1 | ENST00000368507.8 | c.5326A>C | p.Thr1776Pro | missense_variant | Exon 33 of 44 | 5 | NM_001378902.1 | ENSP00000357493.3 | ||
ROS1 | ENST00000368508.7 | c.5344A>C | p.Thr1782Pro | missense_variant | Exon 32 of 43 | 1 | ENSP00000357494.3 | |||
ENSG00000282218 | ENST00000467125.1 | c.548-7957A>C | intron_variant | Intron 4 of 6 | 2 | ENSP00000487717.1 | ||||
ROS1 | ENST00000403284.2 | c.265A>C | p.Thr89Pro | missense_variant | Exon 2 of 3 | 2 | ENSP00000384647.2 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152230Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000561 AC: 14AN: 249428Hom.: 0 AF XY: 0.0000445 AC XY: 6AN XY: 134776
GnomAD4 exome AF: 0.0000587 AC: 81AN: 1379314Hom.: 1 Cov.: 23 AF XY: 0.0000506 AC XY: 35AN XY: 691048
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152230Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74372
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.5344A>C (p.T1782P) alteration is located in exon 32 (coding exon 32) of the ROS1 gene. This alteration results from a A to C substitution at nucleotide position 5344, causing the threonine (T) at amino acid position 1782 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at