chr17-4897881-G-A
Variant summary
Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_153827.5(MINK1):c.*594G>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00171 in 144,636 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 Uncertain significance (★★).
Frequency
Consequence
NM_153827.5 3_prime_UTR
Scores
Clinical Significance
Conservation
Publications
- congenital myasthenic syndromeInheritance: AR Classification: DEFINITIVE Submitted by: Illumina
- congenital myasthenic syndrome 4AInheritance: AD, AR Classification: STRONG Submitted by: Genomics England PanelApp, Labcorp Genetics (formerly Invitae), PanelApp Australia
- congenital myasthenic syndrome 4BInheritance: AR Classification: STRONG Submitted by: Genomics England PanelApp, Labcorp Genetics (formerly Invitae), PanelApp Australia
- congenital myasthenic syndrome 4CInheritance: AR Classification: STRONG Submitted by: Genomics England PanelApp
- postsynaptic congenital myasthenic syndromeInheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet
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ACMG classification
Our verdict: Benign. The variant received -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00172 AC: 248AN: 144554Hom.: 0 Cov.: 29 show subpopulations
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 646Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 356
GnomAD4 genome AF: 0.00171 AC: 247AN: 144636Hom.: 0 Cov.: 29 AF XY: 0.00169 AC XY: 118AN XY: 69874 show subpopulations
ClinVar
Submissions by phenotype
not provided Uncertain:1
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Congenital myasthenic syndrome 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. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at