14-90618037-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001010854.2(TTC7B):c.1760T>C(p.Phe587Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000682 in 1,612,902 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001010854.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TTC7B | NM_001010854.2 | c.1760T>C | p.Phe587Ser | missense_variant | Exon 16 of 20 | ENST00000328459.11 | NP_001010854.1 | |
TTC7B | NM_001401365.1 | c.1760T>C | p.Phe587Ser | missense_variant | Exon 16 of 22 | NP_001388294.1 | ||
TTC7B | NM_001320421.2 | c.1454T>C | p.Phe485Ser | missense_variant | Exon 16 of 21 | NP_001307350.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152242Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251396Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135874
GnomAD4 exome AF: 0.00000685 AC: 10AN: 1460660Hom.: 0 Cov.: 31 AF XY: 0.00000688 AC XY: 5AN XY: 726452
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152242Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74382
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1760T>C (p.F587S) alteration is located in exon 16 (coding exon 16) of the TTC7B gene. This alteration results from a T to C substitution at nucleotide position 1760, causing the phenylalanine (F) at amino acid position 587 to be replaced by a serine (S). 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