1-93992865-T-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000350.3(ABCA4):c.*372A>G variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0602 in 335,058 control chromosomes in the GnomAD database, including 975 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_000350.3 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0760 AC: 11567AN: 152118Hom.: 668 Cov.: 32
GnomAD4 exome AF: 0.0470 AC: 8596AN: 182822Hom.: 307 Cov.: 0 AF XY: 0.0485 AC XY: 4703AN XY: 97060
GnomAD4 genome AF: 0.0760 AC: 11570AN: 152236Hom.: 668 Cov.: 32 AF XY: 0.0744 AC XY: 5536AN XY: 74458
ClinVar
Submissions by phenotype
not provided Benign:2
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Retinitis Pigmentosa, Recessive Benign:1
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Stargardt Disease, Recessive Benign:1
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ABCA4-related disorder Benign:1
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. -
Cone-Rod Dystrophy, Recessive Benign:1
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Macular degeneration Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at