16-89288510-G-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_013275.6(ANKRD11):c.744+18C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00646 in 1,614,056 control chromosomes in the GnomAD database, including 48 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_013275.6 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ANKRD11 | NM_013275.6 | c.744+18C>G | intron_variant | Intron 7 of 12 | ENST00000301030.10 | NP_037407.4 | ||
ANKRD11 | NM_001256182.2 | c.744+18C>G | intron_variant | Intron 8 of 13 | NP_001243111.1 | |||
ANKRD11 | NM_001256183.2 | c.744+18C>G | intron_variant | Intron 7 of 12 | NP_001243112.1 | |||
ANKRD11 | NR_045839.2 | n.1575+18C>G | intron_variant | Intron 9 of 9 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00421 AC: 641AN: 152214Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.00393 AC: 986AN: 250912Hom.: 4 AF XY: 0.00377 AC XY: 512AN XY: 135736
GnomAD4 exome AF: 0.00670 AC: 9787AN: 1461724Hom.: 47 Cov.: 31 AF XY: 0.00652 AC XY: 4741AN XY: 727166
GnomAD4 genome AF: 0.00421 AC: 641AN: 152332Hom.: 1 Cov.: 33 AF XY: 0.00387 AC XY: 288AN XY: 74494
ClinVar
Submissions by phenotype
KBG syndrome Benign:3
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not provided Benign:3
ANKRD11: BS2 -
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not specified Benign:1
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at