chr4-80008576-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM2PM5PP3
The NM_058172.6(ANTXR2):āc.986T>Cā(p.Leu329Pro) variant causes a missense change. The variant allele was found at a frequency of 0.0000112 in 1,607,204 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. L329R) has been classified as Pathogenic.
Frequency
Consequence
NM_058172.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ANTXR2 | NM_058172.6 | c.986T>C | p.Leu329Pro | missense_variant | 12/17 | ENST00000403729.7 | |
ANTXR2 | NM_001145794.2 | c.986T>C | p.Leu329Pro | missense_variant | 12/16 | ||
ANTXR2 | NM_001286780.2 | c.755T>C | p.Leu252Pro | missense_variant | 12/17 | ||
ANTXR2 | NM_001286781.2 | c.755T>C | p.Leu252Pro | missense_variant | 12/17 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANTXR2 | ENST00000403729.7 | c.986T>C | p.Leu329Pro | missense_variant | 12/17 | 1 | NM_058172.6 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152170Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000117 AC: 17AN: 1455034Hom.: 0 Cov.: 30 AF XY: 0.0000138 AC XY: 10AN XY: 723526
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152170Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74332
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at