rs4148437
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_005845.5(ABCC4):c.186-5T>C variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.34 in 1,607,292 control chromosomes in the GnomAD database, including 98,841 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_005845.5 splice_region, splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ABCC4 | NM_005845.5 | c.186-5T>C | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000645237.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABCC4 | ENST00000645237.2 | c.186-5T>C | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | NM_005845.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.278 AC: 42274AN: 151992Hom.: 7180 Cov.: 32
GnomAD3 exomes AF: 0.315 AC: 77384AN: 245454Hom.: 13188 AF XY: 0.317 AC XY: 42003AN XY: 132542
GnomAD4 exome AF: 0.347 AC: 505008AN: 1455182Hom.: 91659 Cov.: 34 AF XY: 0.344 AC XY: 249303AN XY: 723854
GnomAD4 genome ? AF: 0.278 AC: 42269AN: 152110Hom.: 7182 Cov.: 32 AF XY: 0.281 AC XY: 20878AN XY: 74346
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at