rs9362667
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001242809.2(ANKRD6):c.1648G>A(p.Ala550Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00468 in 1,613,662 control chromosomes in the GnomAD database, including 245 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001242809.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ANKRD6 | NM_001242809.2 | c.1648G>A | p.Ala550Thr | missense_variant | 16/16 | ENST00000339746.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANKRD6 | ENST00000339746.9 | c.1648G>A | p.Ala550Thr | missense_variant | 16/16 | 1 | NM_001242809.2 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.00609 AC: 927AN: 152216Hom.: 24 Cov.: 33
GnomAD3 exomes AF: 0.0103 AC: 2551AN: 248558Hom.: 85 AF XY: 0.00986 AC XY: 1330AN XY: 134874
GnomAD4 exome AF: 0.00453 AC: 6627AN: 1461328Hom.: 221 Cov.: 29 AF XY: 0.00460 AC XY: 3343AN XY: 726954
GnomAD4 genome ? AF: 0.00606 AC: 923AN: 152334Hom.: 24 Cov.: 33 AF XY: 0.00799 AC XY: 595AN XY: 74504
ClinVar
Submissions by phenotype
ANKRD6-related condition Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Feb 26, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at