rs2270927
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014979.4(SV2C):c.1445C>A(p.Thr482Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000248 in 1,612,754 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 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. T482S) has been classified as Likely benign.
Frequency
Consequence
NM_014979.4 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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SV2C | NM_014979.4 | c.1445C>A | p.Thr482Asn | missense_variant | 9/13 | ENST00000502798.7 | NP_055794.3 | |
LOC105379042 | XR_001742750.2 | n.530-41G>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SV2C | ENST00000502798.7 | c.1445C>A | p.Thr482Asn | missense_variant | 9/13 | 1 | NM_014979.4 | ENSP00000423541 | P1 | |
ENST00000502589.1 | n.280-9082G>T | intron_variant, non_coding_transcript_variant | 5 | |||||||
SV2C | ENST00000322285.7 | c.1445C>A | p.Thr482Asn | missense_variant | 9/13 | 2 | ENSP00000316983 | |||
SV2C | ENST00000506257.1 | n.200C>A | non_coding_transcript_exon_variant | 2/2 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152056Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460698Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 726644
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152056Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74258
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at