7-55796018-T-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_207366.3(SEPTIN14):c.1194A>T(p.Gln398His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000162 in 1,546,686 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_207366.3 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 | UniProt |
---|---|---|---|---|---|---|---|
SEPTIN14 | NM_207366.3 | c.1194A>T | p.Gln398His | missense_variant | 10/10 | ENST00000388975.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SEPTIN14 | ENST00000388975.4 | c.1194A>T | p.Gln398His | missense_variant | 10/10 | 2 | NM_207366.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152188Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000865 AC: 2AN: 231274Hom.: 0 AF XY: 0.00000784 AC XY: 1AN XY: 127602
GnomAD4 exome AF: 0.0000158 AC: 22AN: 1394498Hom.: 0 Cov.: 23 AF XY: 0.0000143 AC XY: 10AN XY: 697544
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152188Hom.: 0 Cov.: 31 AF XY: 0.0000404 AC XY: 3AN XY: 74338
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 06, 2022 | The c.1194A>T (p.Q398H) alteration is located in exon 10 (coding exon 9) of the SEPT14 gene. This alteration results from a A to T substitution at nucleotide position 1194, causing the glutamine (Q) at amino acid position 398 to be replaced by a histidine (H). 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