1-236795553-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_000254.3(MTR):c.-151C>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 0.0116 in 1,543,408 control chromosomes in the GnomAD database, including 145 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_000254.3 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00809 AC: 1231AN: 152222Hom.: 7 Cov.: 33
GnomAD3 exomes AF: 0.00735 AC: 1162AN: 157988Hom.: 5 AF XY: 0.00766 AC XY: 662AN XY: 86422
GnomAD4 exome AF: 0.0120 AC: 16624AN: 1391068Hom.: 138 Cov.: 31 AF XY: 0.0118 AC XY: 8122AN XY: 688192
GnomAD4 genome AF: 0.00808 AC: 1231AN: 152340Hom.: 7 Cov.: 33 AF XY: 0.00823 AC XY: 613AN XY: 74484
ClinVar
Submissions by phenotype
not provided Benign:3
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MTR: BS1, BS2 -
Disorders of Intracellular Cobalamin Metabolism Benign:1
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at