5-151109776-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001155.5(ANXA6):c.1661G>A(p.Arg554Gln) variant causes a missense change. The variant allele was found at a frequency of 0.000123 in 1,610,986 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001155.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ANXA6 | NM_001155.5 | c.1661G>A | p.Arg554Gln | missense_variant | Exon 22 of 26 | ENST00000354546.10 | NP_001146.2 | |
ANXA6 | NM_001363114.2 | c.1643G>A | p.Arg548Gln | missense_variant | Exon 21 of 25 | NP_001350043.1 | ||
ANXA6 | NM_001193544.2 | c.1565G>A | p.Arg522Gln | missense_variant | Exon 21 of 25 | NP_001180473.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000178 AC: 27AN: 152074Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000102 AC: 25AN: 244482Hom.: 0 AF XY: 0.0000905 AC XY: 12AN XY: 132566
GnomAD4 exome AF: 0.000117 AC: 171AN: 1458912Hom.: 0 Cov.: 30 AF XY: 0.000103 AC XY: 75AN XY: 725462
GnomAD4 genome AF: 0.000178 AC: 27AN: 152074Hom.: 0 Cov.: 32 AF XY: 0.000135 AC XY: 10AN XY: 74286
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1661G>A (p.R554Q) alteration is located in exon 22 (coding exon 21) of the ANXA6 gene. This alteration results from a G to A substitution at nucleotide position 1661, causing the arginine (R) at amino acid position 554 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