rs185028612
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4_StrongBP6
The ENST00000446805(CFTR):c.-251A>G variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00188 in 204,702 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
ENST00000446805 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
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CFTR | ENST00000546407.1 | n.166+3826A>G | intron_variant | Intron 2 of 2 | 1 | |||||
CFTR | ENST00000446805 | c.-251A>G | 5_prime_UTR_variant | Exon 3 of 6 | 4 | ENSP00000417012.1 | ||||
CFTR | ENST00000673785.1 | c.-406+13803A>G | intron_variant | Intron 3 of 12 | ENSP00000501235.1 |
Frequencies
GnomAD3 genomes AF: 0.00187 AC: 284AN: 152046Hom.: 1 Cov.: 32
GnomAD4 exome AF: 0.00192 AC: 101AN: 52538Hom.: 1 Cov.: 0 AF XY: 0.00182 AC XY: 50AN XY: 27450
GnomAD4 genome AF: 0.00187 AC: 284AN: 152164Hom.: 1 Cov.: 32 AF XY: 0.00212 AC XY: 158AN XY: 74390
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:3
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CFTR: BS2 -
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Cystic fibrosis Benign:2
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CFTR-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Hereditary pancreatitis Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at