2-32650179-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_017735.5(TTC27):c.586C>T(p.Leu196Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000248 in 1,613,768 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_017735.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TTC27 | ENST00000317907.9 | c.586C>T | p.Leu196Phe | missense_variant | Exon 5 of 20 | 1 | NM_017735.5 | ENSP00000313953.4 | ||
TTC27 | ENST00000647819.1 | n.586C>T | non_coding_transcript_exon_variant | Exon 5 of 22 | ENSP00000497009.1 | |||||
TTC27 | ENST00000454690.1 | n.88+21799C>T | intron_variant | Intron 1 of 3 | 3 | ENSP00000392883.1 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152090Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461678Hom.: 0 Cov.: 31 AF XY: 0.00000413 AC XY: 3AN XY: 727144
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152090Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74286
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.586C>T (p.L196F) alteration is located in exon 5 (coding exon 5) of the TTC27 gene. This alteration results from a C to T substitution at nucleotide position 586, causing the leucine (L) at amino acid position 196 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