rs61739327
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001242809.2(ANKRD6):c.1907C>T(p.Pro636Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.129 in 1,613,606 control chromosomes in the GnomAD database, including 14,490 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 (★). Synonymous variant affecting the same amino acid position (i.e. P636P) has been classified as Likely benign.
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.1907C>T | p.Pro636Leu | missense_variant | 16/16 | ENST00000339746.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANKRD6 | ENST00000339746.9 | c.1907C>T | p.Pro636Leu | missense_variant | 16/16 | 1 | NM_001242809.2 | A1 |
Frequencies
GnomAD3 genomes AF: 0.0988 AC: 15042AN: 152172Hom.: 963 Cov.: 33
GnomAD3 exomes AF: 0.117 AC: 29158AN: 248226Hom.: 1951 AF XY: 0.124 AC XY: 16771AN XY: 134734
GnomAD4 exome AF: 0.132 AC: 193138AN: 1461316Hom.: 13529 Cov.: 38 AF XY: 0.135 AC XY: 97779AN XY: 726920
GnomAD4 genome AF: 0.0987 AC: 15030AN: 152290Hom.: 961 Cov.: 33 AF XY: 0.0980 AC XY: 7293AN XY: 74454
ClinVar
Submissions by phenotype
ANKRD6-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Oct 23, 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