10-80157730-T-C
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_145868.2(ANXA11):āc.1369A>Gā(p.Ile457Val) variant causes a missense change. The variant allele was found at a frequency of 0.0117 in 1,613,916 control chromosomes in the GnomAD database, including 149 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_145868.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ANXA11 | NM_145868.2 | c.1369A>G | p.Ile457Val | missense_variant | 15/16 | ENST00000422982.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANXA11 | ENST00000422982.8 | c.1369A>G | p.Ile457Val | missense_variant | 15/16 | 1 | NM_145868.2 | P2 |
Frequencies
GnomAD3 genomes AF: 0.00965 AC: 1467AN: 152010Hom.: 19 Cov.: 32
GnomAD3 exomes AF: 0.00955 AC: 2401AN: 251286Hom.: 18 AF XY: 0.00957 AC XY: 1299AN XY: 135806
GnomAD4 exome AF: 0.0119 AC: 17462AN: 1461788Hom.: 130 Cov.: 32 AF XY: 0.0116 AC XY: 8405AN XY: 727202
GnomAD4 genome AF: 0.00964 AC: 1467AN: 152128Hom.: 19 Cov.: 32 AF XY: 0.0104 AC XY: 775AN XY: 74384
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Feb 01, 2024 | ANXA11: BS1, BS2 - |
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 28, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at