chr6-89606070-A-G
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001242809.2(ANKRD6):c.382A>G(p.Ile128Val) variant causes a missense change. The variant allele was found at a frequency of 0.834 in 1,587,258 control chromosomes in the GnomAD database, including 555,010 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 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
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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.382A>G | p.Ile128Val | missense_variant | 5/16 | ENST00000339746.9 | |
LOC124901359 | XR_007059673.1 | n.206-139T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANKRD6 | ENST00000339746.9 | c.382A>G | p.Ile128Val | missense_variant | 5/16 | 1 | NM_001242809.2 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.804 AC: 122356AN: 152096Hom.: 49724 Cov.: 33
GnomAD3 exomes AF: 0.830 AC: 178315AN: 214964Hom.: 74547 AF XY: 0.823 AC XY: 94914AN XY: 115368
GnomAD4 exome AF: 0.837 AC: 1201762AN: 1435044Hom.: 505268 Cov.: 48 AF XY: 0.833 AC XY: 592574AN XY: 711126
GnomAD4 genome ? AF: 0.804 AC: 122421AN: 152214Hom.: 49742 Cov.: 33 AF XY: 0.806 AC XY: 59960AN XY: 74408
ClinVar
Submissions by phenotype
ANKRD6-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Oct 17, 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