rs2273238
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001242809.2(ANKRD6):c.698C>T(p.Thr233Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0726 in 1,613,750 control chromosomes in the GnomAD database, including 9,146 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 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
Genome browser will be placed here
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.698C>T | p.Thr233Met | missense_variant | 8/16 | ENST00000339746.9 | |
LOC124901359 | XR_007059673.1 | n.205+5080G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANKRD6 | ENST00000339746.9 | c.698C>T | p.Thr233Met | missense_variant | 8/16 | 1 | NM_001242809.2 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.137 AC: 20837AN: 152136Hom.: 2401 Cov.: 33
GnomAD3 exomes AF: 0.115 AC: 28717AN: 249234Hom.: 2772 AF XY: 0.110 AC XY: 14913AN XY: 135208
GnomAD4 exome AF: 0.0658 AC: 96227AN: 1461496Hom.: 6738 Cov.: 31 AF XY: 0.0683 AC XY: 49631AN XY: 727010
GnomAD4 genome ? AF: 0.137 AC: 20876AN: 152254Hom.: 2408 Cov.: 33 AF XY: 0.140 AC XY: 10418AN XY: 74452
ClinVar
Submissions by phenotype
ANKRD6-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Oct 18, 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