rs1132079
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP6_Very_StrongBA1
The NM_012263.5(TTLL1):c.750G>A(p.Glu250Glu) variant causes a splice region, synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.268 in 1,611,020 control chromosomes in the GnomAD database, including 61,703 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_012263.5 splice_region, synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TTLL1 | NM_012263.5 | c.750G>A | p.Glu250Glu | splice_region_variant, synonymous_variant | Exon 8 of 11 | ENST00000266254.12 | NP_036395.1 | |
TTLL1 | NR_027779.2 | n.1058G>A | splice_region_variant, non_coding_transcript_exon_variant | Exon 9 of 12 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.224 AC: 33962AN: 151946Hom.: 4464 Cov.: 32
GnomAD3 exomes AF: 0.251 AC: 61642AN: 246058Hom.: 8810 AF XY: 0.257 AC XY: 34119AN XY: 132996
GnomAD4 exome AF: 0.272 AC: 397544AN: 1458954Hom.: 57237 Cov.: 35 AF XY: 0.274 AC XY: 198635AN XY: 725610
GnomAD4 genome AF: 0.223 AC: 33971AN: 152066Hom.: 4466 Cov.: 32 AF XY: 0.221 AC XY: 16448AN XY: 74342
ClinVar
Submissions by phenotype
not specified Benign:1
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at