12-21910317-CAAA-CAAAA
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP6BA1
The NM_020297.4(ABCC9):c.1165-6dupT variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_020297.4 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0266 AC: 3155AN: 118514Hom.: 47 Cov.: 0
GnomAD4 exome AF: 0.0468 AC: 57307AN: 1224094Hom.: 3 Cov.: 0 AF XY: 0.0470 AC XY: 28735AN XY: 610738
GnomAD4 genome AF: 0.0267 AC: 3160AN: 118522Hom.: 48 Cov.: 0 AF XY: 0.0272 AC XY: 1549AN XY: 56914
ClinVar
Submissions by phenotype
not specified Benign:5
1165-6_1165-5insT in intron 07 of ABCC9: This variant is not expected to have cl inical significance because it is located outside the conserved +/- 1, 2 region of the splicing consensus sequence and as part of a poly T stretch. -
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not provided Uncertain:1Benign:2
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Hypertrichotic osteochondrodysplasia Cantu type Uncertain:1
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Familial atrial fibrillation Uncertain:1
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Dilated Cardiomyopathy, Dominant Uncertain:1
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Dilated cardiomyopathy 1O Benign:1
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Cardiomyopathy Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at