chr1-185301158-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP2BP4_Moderate
The NM_006469.5(IVNS1ABP):āc.934T>Cā(p.Phe312Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,204 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_006469.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IVNS1ABP | NM_006469.5 | c.934T>C | p.Phe312Leu | missense_variant | 10/15 | ENST00000367498.8 | |
IVNS1ABP | XM_047434070.1 | c.934T>C | p.Phe312Leu | missense_variant | 10/15 | ||
IVNS1ABP | XM_047434096.1 | c.667T>C | p.Phe223Leu | missense_variant | 9/14 | ||
IVNS1ABP | XM_047434109.1 | c.280T>C | p.Phe94Leu | missense_variant | 4/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IVNS1ABP | ENST00000367498.8 | c.934T>C | p.Phe312Leu | missense_variant | 10/15 | 1 | NM_006469.5 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461204Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 726890
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
IVNS1ABP-related disorder Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Jan 05, 2024 | The IVNS1ABP c.934T>C variant is predicted to result in the amino acid substitution p.Phe312Leu. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at