chr8-73008928-C-T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_001413365.1(TERF1):c.-347C>T variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000367 in 1,612,442 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 Likely benign (no stars).
Frequency
Consequence
NM_001413365.1 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000309 AC: 47AN: 152224Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000468 AC: 115AN: 245472Hom.: 0 AF XY: 0.000399 AC XY: 53AN XY: 132976
GnomAD4 exome AF: 0.000373 AC: 544AN: 1460100Hom.: 0 Cov.: 32 AF XY: 0.000362 AC XY: 263AN XY: 726200
GnomAD4 genome AF: 0.000309 AC: 47AN: 152342Hom.: 0 Cov.: 33 AF XY: 0.000282 AC XY: 21AN XY: 74496
ClinVar
Submissions by phenotype
TERF1-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). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at