chr1-185307516-C-G
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 1P and 2B. PP2BP4_Moderate
The NM_006469.5(IVNS1ABP):āc.504G>Cā(p.Glu168Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000434 in 1,613,022 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 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 Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IVNS1ABP | NM_006469.5 | c.504G>C | p.Glu168Asp | missense_variant | 6/15 | ENST00000367498.8 | |
IVNS1ABP | XM_047434070.1 | c.504G>C | p.Glu168Asp | missense_variant | 6/15 | ||
IVNS1ABP | XM_047434096.1 | c.237G>C | p.Glu79Asp | missense_variant | 5/14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IVNS1ABP | ENST00000367498.8 | c.504G>C | p.Glu168Asp | missense_variant | 6/15 | 1 | NM_006469.5 | P1 | |
IVNS1ABP | ENST00000422754.1 | c.147G>C | p.Glu49Asp | missense_variant | 1/2 | 2 | |||
IVNS1ABP | ENST00000459929.5 | n.1071G>C | non_coding_transcript_exon_variant | 6/16 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152124Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 250962Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135706
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1460780Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726708
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152242Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74448
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at