chr6-118558866-C-T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS1
The NM_002667.5(PLN):c.-56C>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 0.000847 in 1,417,476 control chromosomes in the GnomAD database, including 1 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
NM_002667.5 5_prime_UTR
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: 0.000743 AC: 113AN: 152140Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.000860 AC: 1088AN: 1265218Hom.: 1 Cov.: 18 AF XY: 0.000844 AC XY: 540AN XY: 639712
GnomAD4 genome AF: 0.000742 AC: 113AN: 152258Hom.: 0 Cov.: 32 AF XY: 0.000699 AC XY: 52AN XY: 74426
ClinVar
Submissions by phenotype
not provided Benign:3
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Dilated cardiomyopathy 1P Uncertain:1
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. -
not specified Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at