10-43077251-CACGG-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_020975.6(RET):c.-7_-4delACGG variant causes a 5 prime UTR change. The variant allele was found at a frequency of 0.000000742 in 1,348,552 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020975.6 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RET | NM_020975.6 | c.-7_-4delACGG | 5_prime_UTR_variant | Exon 1 of 20 | ENST00000355710.8 | NP_066124.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 35
GnomAD4 exome AF: 7.42e-7 AC: 1AN: 1348552Hom.: 0 AF XY: 0.00000150 AC XY: 1AN XY: 665028
GnomAD4 genome Cov.: 35
ClinVar
Submissions by phenotype
Hereditary cancer-predisposing syndrome Uncertain:1
The c.-7_-4delACGG variant is located in the 5' untranslated region (5’UTR) of the RET gene. This variant results from a deletion of 4 nucleotides from position c.-7 to c.-4 upstream from the first translated codon. These nucleotide positions are well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.