rs16881983
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001242809.2(ANKRD6):āc.364C>Gā(p.Gln122Glu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0297 in 1,595,912 control chromosomes in the GnomAD database, including 1,446 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ). 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.364C>G | p.Gln122Glu | missense_variant | 5/16 | ENST00000339746.9 | |
LOC124901359 | XR_007059673.1 | n.206-121G>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANKRD6 | ENST00000339746.9 | c.364C>G | p.Gln122Glu | missense_variant | 5/16 | 1 | NM_001242809.2 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.0366 AC: 5567AN: 152114Hom.: 157 Cov.: 33
GnomAD3 exomes AF: 0.0417 AC: 9355AN: 224118Hom.: 387 AF XY: 0.0447 AC XY: 5380AN XY: 120462
GnomAD4 exome AF: 0.0290 AC: 41813AN: 1443680Hom.: 1291 Cov.: 28 AF XY: 0.0315 AC XY: 22526AN XY: 716074
GnomAD4 genome ? AF: 0.0367 AC: 5582AN: 152232Hom.: 155 Cov.: 33 AF XY: 0.0386 AC XY: 2875AN XY: 74428
ClinVar
Submissions by phenotype
ANKRD6-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Feb 19, 2020 | 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