NM_020911.2:c.5611G>A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_020911.2(PLXNA4):c.5611G>A(p.Asp1871Asn) variant causes a missense change. The variant allele was found at a frequency of 0.000128 in 1,614,086 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (no stars).
Frequency
Consequence
NM_020911.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PLXNA4 | NM_020911.2 | c.5611G>A | p.Asp1871Asn | missense_variant | Exon 32 of 32 | ENST00000321063.9 | NP_065962.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PLXNA4 | ENST00000321063.9 | c.5611G>A | p.Asp1871Asn | missense_variant | Exon 32 of 32 | 5 | NM_020911.2 | ENSP00000323194.4 | ||
PLXNA4 | ENST00000359827.7 | c.5611G>A | p.Asp1871Asn | missense_variant | Exon 32 of 32 | 5 | ENSP00000352882.3 |
Frequencies
GnomAD3 genomes AF: 0.0000920 AC: 14AN: 152138Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000120 AC: 30AN: 249320Hom.: 0 AF XY: 0.000148 AC XY: 20AN XY: 135270
GnomAD4 exome AF: 0.000132 AC: 193AN: 1461830Hom.: 0 Cov.: 61 AF XY: 0.000142 AC XY: 103AN XY: 727220
GnomAD4 genome AF: 0.0000920 AC: 14AN: 152256Hom.: 0 Cov.: 33 AF XY: 0.0000806 AC XY: 6AN XY: 74438
ClinVar
Submissions by phenotype
PLXNA4-related disorder Uncertain:1
The PLXNA4 c.5611G>A variant is predicted to result in the amino acid substitution p.Asp1871Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.021% of alleles in individuals of European (Non-Finnish) descent in gnomAD. 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