rs376530914
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_001371333.1(DIABLO):c.-11C>T variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00023 in 1,601,310 control chromosomes in the GnomAD database, with no homozygous occurrence. 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
NM_001371333.1 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DIABLO | NM_001371333.1 | c.-11C>T | 5_prime_UTR_variant | Exon 1 of 6 | ENST00000464942.7 | NP_001358262.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000230 AC: 35AN: 152228Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000218 AC: 49AN: 225208Hom.: 0 AF XY: 0.000235 AC XY: 29AN XY: 123184
GnomAD4 exome AF: 0.000230 AC: 333AN: 1448964Hom.: 0 Cov.: 32 AF XY: 0.000211 AC XY: 152AN XY: 720086
GnomAD4 genome AF: 0.000230 AC: 35AN: 152346Hom.: 0 Cov.: 32 AF XY: 0.000201 AC XY: 15AN XY: 74496
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.-11C>T variant in DIABLO has not been previously reported in individuals w ith hearing loss but has been identified in 22/27112 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs376 530914). This variant is in the 5'UTR of DIABLO; however, its effect on transla tion is unknown. In summary the clinical significance of the c.-3G>T variant is uncertain. -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at