chr22-27982636-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP2BP4_Moderate
The NM_001145418.2(TTC28):āc.7031A>Cā(p.Lys2344Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000967 in 1,551,478 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001145418.2 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 |
---|---|---|---|---|---|---|---|
TTC28 | NM_001145418.2 | c.7031A>C | p.Lys2344Thr | missense_variant | 23/23 | ENST00000397906.7 | |
TTC28-AS1 | NR_026963.1 | n.251-11837T>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TTC28 | ENST00000397906.7 | c.7031A>C | p.Lys2344Thr | missense_variant | 23/23 | 1 | NM_001145418.2 | P1 | |
TTC28-AS1 | ENST00000454741.5 | n.206-11837T>G | intron_variant, non_coding_transcript_variant | 1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 151982Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000638 AC: 1AN: 156862Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 83094
GnomAD4 exome AF: 0.00000857 AC: 12AN: 1399496Hom.: 0 Cov.: 31 AF XY: 0.00000869 AC XY: 6AN XY: 690252
GnomAD4 genome AF: 0.0000197 AC: 3AN: 151982Hom.: 0 Cov.: 31 AF XY: 0.0000269 AC XY: 2AN XY: 74214
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 16, 2022 | The c.7031A>C (p.K2344T) alteration is located in exon 23 (coding exon 23) of the TTC28 gene. This alteration results from a A to C substitution at nucleotide position 7031, causing the lysine (K) at amino acid position 2344 to be replaced by a threonine (T). 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