chr2-46592543-T-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_002643.4(PIGF):āc.478A>Gā(p.Ile160Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000412 in 1,456,624 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 Uncertain significance (ā ).
Frequency
Consequence
NM_002643.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PIGF | NM_002643.4 | c.478A>G | p.Ile160Val | missense_variant | 5/6 | ENST00000281382.11 | NP_002634.1 | |
PIGF | NM_173074.3 | c.478A>G | p.Ile160Val | missense_variant | 5/7 | NP_775097.1 | ||
PIGF | XM_011532908.4 | c.478A>G | p.Ile160Val | missense_variant | 5/7 | XP_011531210.1 | ||
PIGF | XM_005264369.4 | c.478A>G | p.Ile160Val | missense_variant | 5/6 | XP_005264426.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PIGF | ENST00000281382.11 | c.478A>G | p.Ile160Val | missense_variant | 5/6 | 1 | NM_002643.4 | ENSP00000281382 | P1 | |
PIGF | ENST00000306465.8 | c.478A>G | p.Ile160Val | missense_variant | 5/7 | 1 | ENSP00000302663 | |||
PIGF | ENST00000420164.5 | c.88A>G | p.Ile30Val | missense_variant, NMD_transcript_variant | 2/4 | 5 | ENSP00000410361 | |||
PIGF | ENST00000412717.1 | c.*47A>G | 3_prime_UTR_variant, NMD_transcript_variant | 4/5 | 3 | ENSP00000413202 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000412 AC: 6AN: 1456624Hom.: 0 Cov.: 27 AF XY: 0.00000276 AC XY: 2AN XY: 725024
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 11, 2023 | The c.478A>G (p.I160V) alteration is located in exon 5 (coding exon 4) of the PIGF gene. This alteration results from a A to G substitution at nucleotide position 478, causing the isoleucine (I) at amino acid position 160 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at