5-151108518-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001155.5(ANXA6):c.1717G>A(p.Asp573Asn) variant causes a missense change. The variant allele was found at a frequency of 0.000153 in 1,613,862 control chromosomes in the GnomAD database, including 1 homozygotes. 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.1717G>A | p.Asp573Asn | missense_variant | Exon 23 of 26 | ENST00000354546.10 | NP_001146.2 | |
ANXA6 | NM_001363114.2 | c.1699G>A | p.Asp567Asn | missense_variant | Exon 22 of 25 | NP_001350043.1 | ||
ANXA6 | NM_001193544.2 | c.1621G>A | p.Asp541Asn | missense_variant | Exon 22 of 25 | NP_001180473.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152182Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000964 AC: 24AN: 248938Hom.: 0 AF XY: 0.0000666 AC XY: 9AN XY: 135050
GnomAD4 exome AF: 0.000158 AC: 231AN: 1461680Hom.: 1 Cov.: 30 AF XY: 0.000168 AC XY: 122AN XY: 727130
GnomAD4 genome AF: 0.000105 AC: 16AN: 152182Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74334
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1717G>A (p.D573N) alteration is located in exon 23 (coding exon 22) of the ANXA6 gene. This alteration results from a G to A substitution at nucleotide position 1717, causing the aspartic acid (D) at amino acid position 573 to be replaced by an asparagine (N). 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