2-32664336-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_017735.5(TTC27):c.674C>T(p.Ser225Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000687 in 1,455,626 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TTC27 | NM_017735.5 | c.674C>T | p.Ser225Leu | missense_variant | 6/20 | ENST00000317907.9 | NP_060205.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TTC27 | ENST00000317907.9 | c.674C>T | p.Ser225Leu | missense_variant | 6/20 | 1 | NM_017735.5 | ENSP00000313953 | P1 | |
TTC27 | ENST00000647819.1 | c.674C>T | p.Ser225Leu | missense_variant, NMD_transcript_variant | 6/22 | ENSP00000497009 | ||||
TTC27 | ENST00000454690.1 | c.89-14520C>T | intron_variant, NMD_transcript_variant | 3 | ENSP00000392883 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.87e-7 AC: 1AN: 1455626Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 723384
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 20, 2023 | The c.674C>T (p.S225L) alteration is located in exon 6 (coding exon 6) of the TTC27 gene. This alteration results from a C to T substitution at nucleotide position 674, causing the serine (S) at amino acid position 225 to be replaced by a leucine (L). 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
Publications
No publications associated with this variant yet.