22-19721937-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_002688.6(SEPTIN5):c.930C>G(p.His310Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000143 in 1,609,794 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002688.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SEPTIN5 | NM_002688.6 | c.930C>G | p.His310Gln | missense_variant | 10/12 | ENST00000455784.7 | |
SEPT5-GP1BB | NR_037611.1 | n.2475C>G | non_coding_transcript_exon_variant | 9/12 | |||
SEPTIN5 | NM_001009939.3 | c.946C>G | p.Leu316Val | missense_variant | 9/11 | ||
SEPT5-GP1BB | NR_037612.1 | n.979C>G | non_coding_transcript_exon_variant | 9/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SEPTIN5 | ENST00000455784.7 | c.930C>G | p.His310Gln | missense_variant | 10/12 | 1 | NM_002688.6 |
Frequencies
GnomAD3 genomes ? AF: 0.0000460 AC: 7AN: 152192Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000814 AC: 2AN: 245632Hom.: 0 AF XY: 0.00000747 AC XY: 1AN XY: 133918
GnomAD4 exome AF: 0.0000110 AC: 16AN: 1457484Hom.: 0 Cov.: 36 AF XY: 0.00000966 AC XY: 7AN XY: 724584
GnomAD4 genome ? AF: 0.0000460 AC: 7AN: 152310Hom.: 0 Cov.: 33 AF XY: 0.0000671 AC XY: 5AN XY: 74472
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 27, 2021 | The c.930C>G (p.H310Q) alteration is located in exon 10 (coding exon 10) of the SEPT5 gene. This alteration results from a C to G substitution at nucleotide position 930, causing the histidine (H) at amino acid position 310 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