5-151101480-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001155.5(ANXA6):c.1990G>A(p.Ala664Thr) variant causes a missense change. The variant allele was found at a frequency of 0.00000142 in 1,409,500 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ANXA6 | NM_001155.5 | c.1990G>A | p.Ala664Thr | missense_variant | Exon 26 of 26 | ENST00000354546.10 | NP_001146.2 | |
ANXA6 | NM_001363114.2 | c.1972G>A | p.Ala658Thr | missense_variant | Exon 25 of 25 | NP_001350043.1 | ||
ANXA6 | NM_001193544.2 | c.1894G>A | p.Ala632Thr | missense_variant | Exon 25 of 25 | NP_001180473.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.00000142 AC: 2AN: 1409500Hom.: 0 Cov.: 32 AF XY: 0.00000144 AC XY: 1AN XY: 696304
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1990G>A (p.A664T) alteration is located in exon 26 (coding exon 25) of the ANXA6 gene. This alteration results from a G to A substitution at nucleotide position 1990, causing the alanine (A) at amino acid position 664 to be replaced by a threonine (T). 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