chr22-43039806-C-A
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_012263.5(TTLL1):c.1242G>T(p.Ser414=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. S414S) has been classified as Benign.
Frequency
Consequence
NM_012263.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TTLL1 | NM_012263.5 | c.1242G>T | p.Ser414= | synonymous_variant | 11/11 | ENST00000266254.12 | |
TTLL1-AS1 | NR_125362.1 | n.1222C>A | non_coding_transcript_exon_variant | 1/3 | |||
TTLL1 | NR_027779.2 | n.1550G>T | non_coding_transcript_exon_variant | 12/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TTLL1 | ENST00000266254.12 | c.1242G>T | p.Ser414= | synonymous_variant | 11/11 | 1 | NM_012263.5 | P1 | |
TTLL1-AS1 | ENST00000443063.1 | n.1222C>A | non_coding_transcript_exon_variant | 1/3 | 1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at