chr1-117075065-C-G
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_003594.4(TTF2):āc.481C>Gā(p.Gln161Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000224 in 1,613,882 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ).
Frequency
Consequence
NM_003594.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TTF2 | NM_003594.4 | c.481C>G | p.Gln161Glu | missense_variant | 5/23 | ENST00000369466.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TTF2 | ENST00000369466.9 | c.481C>G | p.Gln161Glu | missense_variant | 5/23 | 1 | NM_003594.4 | P1 | |
TTF2 | ENST00000470935.1 | n.470C>G | non_coding_transcript_exon_variant | 5/5 | 5 |
Frequencies
GnomAD3 genomes AF: 0.000408 AC: 62AN: 151920Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.000980 AC: 246AN: 251134Hom.: 2 AF XY: 0.000715 AC XY: 97AN XY: 135750
GnomAD4 exome AF: 0.000205 AC: 300AN: 1461844Hom.: 1 Cov.: 30 AF XY: 0.000172 AC XY: 125AN XY: 727220
GnomAD4 genome AF: 0.000401 AC: 61AN: 152038Hom.: 0 Cov.: 30 AF XY: 0.000498 AC XY: 37AN XY: 74300
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | May 25, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at