chr5-160010614-C-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_003314.3(TTC1):āc.86C>Gā(p.Ala29Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00801 in 1,614,118 control chromosomes in the GnomAD database, including 123 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_003314.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TTC1 | NM_003314.3 | c.86C>G | p.Ala29Gly | missense_variant | 2/8 | ENST00000231238.10 | |
TTC1 | NM_001282500.2 | c.86C>G | p.Ala29Gly | missense_variant | 2/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TTC1 | ENST00000231238.10 | c.86C>G | p.Ala29Gly | missense_variant | 2/8 | 1 | NM_003314.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0115 AC: 1751AN: 152180Hom.: 23 Cov.: 32
GnomAD3 exomes AF: 0.00937 AC: 2356AN: 251346Hom.: 32 AF XY: 0.00964 AC XY: 1310AN XY: 135854
GnomAD4 exome AF: 0.00765 AC: 11177AN: 1461820Hom.: 100 Cov.: 31 AF XY: 0.00790 AC XY: 5748AN XY: 727208
GnomAD4 genome AF: 0.0116 AC: 1760AN: 152298Hom.: 23 Cov.: 32 AF XY: 0.0111 AC XY: 828AN XY: 74468
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at