rs150745099
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4BP6_Moderate
The NM_014714.4(IFT140):c.2110G>A(p.Gly704Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00013 in 1,611,434 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G704D) has been classified as Uncertain significance.
Frequency
Consequence
NM_014714.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IFT140 | NM_014714.4 | c.2110G>A | p.Gly704Ser | missense_variant | 18/31 | ENST00000426508.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IFT140 | ENST00000426508.7 | c.2110G>A | p.Gly704Ser | missense_variant | 18/31 | 5 | NM_014714.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000349 AC: 53AN: 151868Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000169 AC: 42AN: 249188Hom.: 0 AF XY: 0.000156 AC XY: 21AN XY: 134706
GnomAD4 exome AF: 0.000103 AC: 150AN: 1459466Hom.: 0 Cov.: 30 AF XY: 0.0000964 AC XY: 70AN XY: 725928
GnomAD4 genome AF: 0.000395 AC: 60AN: 151968Hom.: 1 Cov.: 32 AF XY: 0.000377 AC XY: 28AN XY: 74254
ClinVar
Submissions by phenotype
Saldino-Mainzer syndrome Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 05, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at