rs1555523386
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM1PM2
The NM_013275.6(ANKRD11):c.7618C>T(p.Arg2540Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,242 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_013275.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ANKRD11 | NM_013275.6 | c.7618C>T | p.Arg2540Trp | missense_variant | Exon 11 of 13 | ENST00000301030.10 | NP_037407.4 | |
ANKRD11 | NM_001256182.2 | c.7618C>T | p.Arg2540Trp | missense_variant | Exon 12 of 14 | NP_001243111.1 | ||
ANKRD11 | NM_001256183.2 | c.7618C>T | p.Arg2540Trp | missense_variant | Exon 11 of 13 | NP_001243112.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461242Hom.: 0 Cov.: 33 AF XY: 0.00000275 AC XY: 2AN XY: 726952
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
KBG syndrome Pathogenic:1Uncertain:2
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Criteria applied: PS2_MOD,PS4_SUP,PM2_SUP -
not provided Uncertain:2
Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; De novo variant with confirmed parentage in a patient referred for genetic testing at GeneDx; however, the reported clinical features are only partially consistent with the features typically observed in individuals with pathogenic variants in this gene -
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at