2-96860789-C-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_017789.5(SEMA4C):āc.2339G>Cā(p.Gly780Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00013 in 1,613,606 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_017789.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SEMA4C | NM_017789.5 | c.2339G>C | p.Gly780Ala | missense_variant | 15/15 | ENST00000305476.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SEMA4C | ENST00000305476.10 | c.2339G>C | p.Gly780Ala | missense_variant | 15/15 | 1 | NM_017789.5 | P1 | |
SEMA4C | ENST00000467747.1 | n.2330G>C | non_coding_transcript_exon_variant | 3/3 | 2 | ||||
SEMA4C | ENST00000474420.1 | n.1572G>C | non_coding_transcript_exon_variant | 2/2 | 2 | ||||
SEMA4C | ENST00000482925.5 | n.2729G>C | non_coding_transcript_exon_variant | 13/13 | 2 |
Frequencies
GnomAD3 genomes AF: 0.000177 AC: 27AN: 152160Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000637 AC: 16AN: 251012Hom.: 0 AF XY: 0.0000957 AC XY: 13AN XY: 135784
GnomAD4 exome AF: 0.000125 AC: 183AN: 1461446Hom.: 0 Cov.: 31 AF XY: 0.000127 AC XY: 92AN XY: 727052
GnomAD4 genome AF: 0.000177 AC: 27AN: 152160Hom.: 0 Cov.: 33 AF XY: 0.000148 AC XY: 11AN XY: 74338
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at