rs2071203
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001290060.2(SEMA3B):c.1244C>A(p.Thr415Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000715 in 1,397,960 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 9/13 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001290060.2 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 |
---|---|---|---|---|---|---|---|---|
SEMA3B | NM_001290060.2 | c.1244C>A | p.Thr415Asn | missense_variant | 11/17 | ENST00000616701.5 | NP_001276989.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SEMA3B | ENST00000616701.5 | c.1244C>A | p.Thr415Asn | missense_variant | 11/17 | 1 | NM_001290060.2 | ENSP00000484146.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 7.15e-7 AC: 1AN: 1397960Hom.: 0 Cov.: 31 AF XY: 0.00000145 AC XY: 1AN XY: 690542
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at