chr2-32666656-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_017735.5(TTC27):c.827G>A(p.Arg276Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000403 in 1,613,530 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R276W) has been classified 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 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TTC27 | NM_017735.5 | c.827G>A | p.Arg276Gln | missense_variant | 7/20 | ENST00000317907.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TTC27 | ENST00000317907.9 | c.827G>A | p.Arg276Gln | missense_variant | 7/20 | 1 | NM_017735.5 | P1 | |
TTC27 | ENST00000647819.1 | c.827G>A | p.Arg276Gln | missense_variant, NMD_transcript_variant | 7/22 | ||||
TTC27 | ENST00000454690.1 | c.89-12200G>A | intron_variant, NMD_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 3AN: 152028Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251040Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135682
GnomAD4 exome AF: 0.0000424 AC: 62AN: 1461502Hom.: 0 Cov.: 30 AF XY: 0.0000385 AC XY: 28AN XY: 727058
GnomAD4 genome ? AF: 0.0000197 AC: 3AN: 152028Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74244
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 05, 2024 | The c.827G>A (p.R276Q) alteration is located in exon 7 (coding exon 7) of the TTC27 gene. This alteration results from a G to A substitution at nucleotide position 827, causing the arginine (R) at amino acid position 276 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