14-20295480-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_138376.3(TTC5):c.890G>A(p.Arg297His) variant causes a missense change. The variant allele was found at a frequency of 0.000026 in 1,613,778 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict 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. R297C) has been classified as Uncertain significance.
Frequency
Consequence
NM_138376.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TTC5 | ENST00000258821.8 | c.890G>A | p.Arg297His | missense_variant | Exon 8 of 10 | 1 | NM_138376.3 | ENSP00000258821.3 | ||
TTC5 | ENST00000383029.7 | n.*435G>A | non_coding_transcript_exon_variant | Exon 8 of 10 | 1 | ENSP00000372496.3 | ||||
TTC5 | ENST00000383029.7 | n.*435G>A | 3_prime_UTR_variant | Exon 8 of 10 | 1 | ENSP00000372496.3 | ||||
TTC5 | ENST00000554157.5 | n.901G>A | non_coding_transcript_exon_variant | Exon 8 of 9 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152130Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000677 AC: 17AN: 251016Hom.: 0 AF XY: 0.0000590 AC XY: 8AN XY: 135700
GnomAD4 exome AF: 0.0000246 AC: 36AN: 1461648Hom.: 0 Cov.: 34 AF XY: 0.0000193 AC XY: 14AN XY: 727088
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152130Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74312
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.890G>A (p.R297H) alteration is located in exon 8 (coding exon 8) of the TTC5 gene. This alteration results from a G to A substitution at nucleotide position 890, causing the arginine (R) at amino acid position 297 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
not provided Uncertain:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at