rs767215473
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001155.5(ANXA6):c.1593A>T(p.Glu531Asp) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000138 in 1,446,886 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. 1/1 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001155.5 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ANXA6 | NM_001155.5 | c.1593A>T | p.Glu531Asp | missense_variant, splice_region_variant | Exon 22 of 26 | ENST00000354546.10 | NP_001146.2 | |
ANXA6 | NM_001363114.2 | c.1575A>T | p.Glu525Asp | missense_variant, splice_region_variant | Exon 21 of 25 | NP_001350043.1 | ||
ANXA6 | NM_001193544.2 | c.1497A>T | p.Glu499Asp | missense_variant, splice_region_variant | Exon 21 of 25 | NP_001180473.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000872 AC: 2AN: 229250Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 124020
GnomAD4 exome AF: 0.00000138 AC: 2AN: 1446886Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 718886
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at