10-46379957-A-C
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_001098845.3(ANXA8L1):c.94A>C(p.Lys32Gln) variant causes a missense change. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001098845.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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.94A>C | p.Lys32Gln | missense_variant | Exon 2 of 12 | ENST00000619162.5 | NP_001092315.2 | |
ANXA8L1 | NM_001278924.2 | c.94A>C | p.Lys32Gln | missense_variant | Exon 2 of 9 | NP_001265853.1 | ||
ANXA8L1 | NM_001278923.2 | c.94A>C | p.Lys32Gln | missense_variant | Exon 2 of 10 | NP_001265852.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 0
GnomAD3 exomes AF: 0.000111 AC: 9AN: 80884Hom.: 0 AF XY: 0.0000741 AC XY: 3AN XY: 40468
GnomAD4 exome Cov.: 0
GnomAD4 genome Cov.: 0
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.94A>C (p.K32Q) alteration is located in exon 2 (coding exon 2) of the ANXA8L2 gene. This alteration results from a A to C substitution at nucleotide position 94, causing the lysine (K) at amino acid position 32 to be replaced by a glutamine (Q). 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