1-54733666-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_004623.5(TTC4):c.934C>A(p.Pro312Thr) variant causes a missense change. The variant allele was found at a frequency of 0.000000689 in 1,451,946 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_004623.5 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 |
---|---|---|---|---|---|---|---|---|---|---|
TTC4 | ENST00000371281.4 | c.934C>A | p.Pro312Thr | missense_variant | Exon 8 of 10 | 1 | NM_004623.5 | ENSP00000360329.3 | ||
MROH7-TTC4 | ENST00000414150.6 | n.*636C>A | non_coding_transcript_exon_variant | Exon 31 of 33 | 2 | ENSP00000410192.2 | ||||
MROH7-TTC4 | ENST00000414150.6 | n.*636C>A | 3_prime_UTR_variant | Exon 31 of 33 | 2 | ENSP00000410192.2 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.00000407 AC: 1AN: 245580Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 132970
GnomAD4 exome AF: 6.89e-7 AC: 1AN: 1451946Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 722238
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.934C>A (p.P312T) alteration is located in exon 8 (coding exon 8) of the TTC4 gene. This alteration results from a C to A substitution at nucleotide position 934, causing the proline (P) at amino acid position 312 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