7-35879905-C-T
Variant summary
Our verdict is Uncertain significance. The variant received 1 ACMG points: 2P and 1B. PM2BP4
The NM_001788.6(SEPTIN7):c.595C>T(p.Leu199Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000463 in 1,598,222 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001788.6 missense
Scores
Clinical Significance
Conservation
Publications
Genome browser will be placed here
ACMG classification
Our verdict: Uncertain_significance. The variant received 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SEPTIN7 | ENST00000350320.11 | c.595C>T | p.Leu199Phe | missense_variant | Exon 7 of 14 | 5 | NM_001788.6 | ENSP00000344868.8 | ||
SEPTIN7 | ENST00000635047.1 | c.436C>T | p.Leu146Phe | missense_variant | Exon 7 of 7 | 4 | ENSP00000489480.1 | |||
SEPTIN7 | ENST00000635175.1 | n.*512C>T | non_coding_transcript_exon_variant | Exon 7 of 14 | 2 | ENSP00000489192.1 | ||||
SEPTIN7 | ENST00000635175.1 | n.*512C>T | 3_prime_UTR_variant | Exon 7 of 14 | 2 | ENSP00000489192.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152174Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.0000220 AC: 5AN: 227320 AF XY: 0.0000327 show subpopulations
GnomAD4 exome AF: 0.0000498 AC: 72AN: 1446048Hom.: 0 Cov.: 28 AF XY: 0.0000474 AC XY: 34AN XY: 717860 show subpopulations
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152174Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74326 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.595C>T (p.L199F) alteration is located in exon 7 (coding exon 7) of the SEPT7 gene. This alteration results from a C to T substitution at nucleotide position 595, causing the leucine (L) at amino acid position 199 to be replaced by a phenylalanine (F). 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