chr11-113395358-G-T
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 1P and 16B. PP3BP6_Very_StrongBS1BS2
The NM_178510.2(ANKK1):c.633-1G>T variant causes a splice acceptor change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00133 in 1,613,902 control chromosomes in the GnomAD database, including 34 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_178510.2 splice_acceptor
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ANKK1 | NM_178510.2 | c.633-1G>T | splice_acceptor_variant | ENST00000303941.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANKK1 | ENST00000303941.4 | c.633-1G>T | splice_acceptor_variant | 1 | NM_178510.2 | P1 | |||
ANKK1 | ENST00000542948.1 | c.*187-1G>T | splice_acceptor_variant, NMD_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.00746 AC: 1135AN: 152124Hom.: 14 Cov.: 32
GnomAD3 exomes AF: 0.00194 AC: 484AN: 249230Hom.: 5 AF XY: 0.00158 AC XY: 214AN XY: 135218
GnomAD4 exome AF: 0.000697 AC: 1019AN: 1461660Hom.: 20 Cov.: 31 AF XY: 0.000624 AC XY: 454AN XY: 727120
GnomAD4 genome AF: 0.00745 AC: 1134AN: 152242Hom.: 14 Cov.: 32 AF XY: 0.00748 AC XY: 557AN XY: 74452
ClinVar
Submissions by phenotype
ANKK1-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Apr 06, 2022 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 31, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at