NM_014391.3:c.346-13_346-10delATTT
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP6
The NM_014391.3(ANKRD1):c.346-13_346-10delATTT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000205 in 1,221,686 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_014391.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ANKRD1 | NM_014391.3 | c.346-13_346-10delATTT | intron_variant | Intron 3 of 8 | ENST00000371697.4 | NP_055206.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 91026Hom.: 0 Cov.: 0 FAILED QC
GnomAD4 exome AF: 0.0000205 AC: 25AN: 1221686Hom.: 1 AF XY: 0.0000277 AC XY: 17AN XY: 614702
GnomAD4 genome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 91026Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 43532
ClinVar
Submissions by phenotype
Dilated Cardiomyopathy, Dominant Uncertain:1
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not specified Benign:1
Variant summary: ANKRD1 c.346-13_346-10delATTT alters a nucleotide located at a position not widely known to affect splicing. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 1.9e-05 in 1312712 control chromosomes in the gnomAD database (v4), including 1 homozygotes. This frequency is not significantly higher than estimated for a pathogenic variant in ANKRD1 causing Cardiomyopathy (1.9e-05 vs 2.5e-05), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.346-13_346-10delATTT in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 201658). Based on the evidence outlined above, the variant was classified as likely benign. -
Cardiomyopathy Benign:1
The variant is found in DCM-CRDM,CARDIOMYOPATHY panel(s). -
ANKRD1-related dilated cardiomyopathy Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at