chr2-46614973-T-C
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 2P and 7B. PM2BP4_StrongBP6_ModerateBP7
The NM_002643.4(PIGF):āc.192A>Gā(p.Pro64=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000139 in 1,438,776 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ).
Frequency
Consequence
NM_002643.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PIGF | NM_002643.4 | c.192A>G | p.Pro64= | synonymous_variant | 2/6 | ENST00000281382.11 | NP_002634.1 | |
PIGF | NM_173074.3 | c.192A>G | p.Pro64= | synonymous_variant | 2/7 | NP_775097.1 | ||
PIGF | XM_011532908.4 | c.192A>G | p.Pro64= | synonymous_variant | 2/7 | XP_011531210.1 | ||
PIGF | XM_005264369.4 | c.192A>G | p.Pro64= | synonymous_variant | 2/6 | XP_005264426.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PIGF | ENST00000281382.11 | c.192A>G | p.Pro64= | synonymous_variant | 2/6 | 1 | NM_002643.4 | ENSP00000281382 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000139 AC: 2AN: 1438776Hom.: 0 Cov.: 26 AF XY: 0.00000139 AC XY: 1AN XY: 717372
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Dec 01, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.