10-46381163-A-G
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_001098845.3(ANXA8L1):c.130A>G(p.Ile44Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 10/16 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001098845.3 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 |
---|---|---|---|---|---|---|---|---|
ANXA8L1 | NM_001098845.3 | c.130A>G | p.Ile44Val | missense_variant | Exon 3 of 12 | ENST00000619162.5 | NP_001092315.2 | |
ANXA8L1 | NM_001278924.2 | c.244A>G | p.Ile82Val | missense_variant | Exon 3 of 9 | NP_001265853.1 | ||
ANXA8L1 | NM_001278923.2 | c.130A>G | p.Ile44Val | missense_variant | Exon 3 of 10 | NP_001265852.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 5
GnomAD3 exomes AF: 0.000336 AC: 25AN: 74490Hom.: 3 AF XY: 0.000589 AC XY: 22AN XY: 37342
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000139 AC: 8AN: 573570Hom.: 0 Cov.: 8 AF XY: 0.0000134 AC XY: 4AN XY: 299450
GnomAD4 genome Cov.: 5
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.130A>G (p.I44V) alteration is located in exon 3 (coding exon 3) of the ANXA8L2 gene. This alteration results from a A to G substitution at nucleotide position 130, causing the isoleucine (I) at amino acid position 44 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