chr5-151117174-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001155.5(ANXA6):c.1525C>T(p.Arg509Cys) variant causes a missense change. The variant allele was found at a frequency of 0.000457 in 1,589,874 control chromosomes in the GnomAD database, with no homozygous occurrence. 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.1525C>T | p.Arg509Cys | missense_variant | Exon 20 of 26 | ENST00000354546.10 | NP_001146.2 | |
ANXA6 | NM_001363114.2 | c.1525C>T | p.Arg509Cys | missense_variant | Exon 20 of 25 | NP_001350043.1 | ||
ANXA6 | NM_001193544.2 | c.1429C>T | p.Arg477Cys | missense_variant | Exon 19 of 25 | NP_001180473.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000355 AC: 54AN: 152092Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000296 AC: 69AN: 233270Hom.: 0 AF XY: 0.000331 AC XY: 42AN XY: 126984
GnomAD4 exome AF: 0.000467 AC: 672AN: 1437664Hom.: 0 Cov.: 31 AF XY: 0.000452 AC XY: 323AN XY: 714442
GnomAD4 genome AF: 0.000355 AC: 54AN: 152210Hom.: 0 Cov.: 32 AF XY: 0.000349 AC XY: 26AN XY: 74402
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1525C>T (p.R509C) alteration is located in exon 20 (coding exon 19) of the ANXA6 gene. This alteration results from a C to T substitution at nucleotide position 1525, causing the arginine (R) at amino acid position 509 to be replaced by a cysteine (C). 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