5-151109798-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001155.5(ANXA6):āc.1639T>Gā(p.Phe547Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000158 in 1,459,404 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001155.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ANXA6 | NM_001155.5 | c.1639T>G | p.Phe547Val | missense_variant | Exon 22 of 26 | ENST00000354546.10 | NP_001146.2 | |
ANXA6 | NM_001363114.2 | c.1621T>G | p.Phe541Val | missense_variant | Exon 21 of 25 | NP_001350043.1 | ||
ANXA6 | NM_001193544.2 | c.1543T>G | p.Phe515Val | missense_variant | Exon 21 of 25 | NP_001180473.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000408 AC: 10AN: 245018Hom.: 0 AF XY: 0.0000376 AC XY: 5AN XY: 132902
GnomAD4 exome AF: 0.0000158 AC: 23AN: 1459404Hom.: 0 Cov.: 30 AF XY: 0.0000165 AC XY: 12AN XY: 725774
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1639T>G (p.F547V) alteration is located in exon 22 (coding exon 21) of the ANXA6 gene. This alteration results from a T to G substitution at nucleotide position 1639, causing the phenylalanine (F) at amino acid position 547 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