rs1764610211
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001155.5(ANXA6):āc.1888A>Gā(p.Ser630Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,459,132 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
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.1888A>G | p.Ser630Gly | missense_variant | Exon 25 of 26 | ENST00000354546.10 | NP_001146.2 | |
ANXA6 | NM_001363114.2 | c.1870A>G | p.Ser624Gly | missense_variant | Exon 24 of 25 | NP_001350043.1 | ||
ANXA6 | NM_001193544.2 | c.1792A>G | p.Ser598Gly | missense_variant | Exon 24 of 25 | NP_001180473.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459132Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 725486
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1888A>G (p.S630G) alteration is located in exon 25 (coding exon 24) of the ANXA6 gene. This alteration results from a A to G substitution at nucleotide position 1888, causing the serine (S) at amino acid position 630 to be replaced by a glycine (G). 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