2-119473454-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002980.3(SCTR):c.404G>A(p.Arg135Gln) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000217 in 1,610,320 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 17/23 in silico tools predict a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002980.3 missense, splice_region
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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SCTR | NM_002980.3 | c.404G>A | p.Arg135Gln | missense_variant, splice_region_variant | 4/13 | ENST00000019103.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SCTR | ENST00000019103.8 | c.404G>A | p.Arg135Gln | missense_variant, splice_region_variant | 4/13 | 1 | NM_002980.3 | P1 | |
SCTR | ENST00000627145.1 | c.479G>A | p.Arg160Gln | missense_variant, splice_region_variant | 5/8 | 5 | |||
SCTR | ENST00000630739.2 | c.200G>A | p.Arg67Gln | missense_variant, splice_region_variant | 5/8 | 5 | |||
SCTR | ENST00000485440.1 | n.1182G>A | splice_region_variant, non_coding_transcript_exon_variant | 2/10 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152146Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 251270Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135806
GnomAD4 exome AF: 0.0000219 AC: 32AN: 1458174Hom.: 0 Cov.: 32 AF XY: 0.0000207 AC XY: 15AN XY: 725618
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152146Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74316
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 01, 2023 | The c.404G>A (p.R135Q) alteration is located in exon 4 (coding exon 4) of the SCTR gene. This alteration results from a G to A substitution at nucleotide position 404, causing the arginine (R) at amino acid position 135 to be replaced by a glutamine (Q). 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