rs174536
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Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001127392.3(MYRF):c.3300+70A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.335 in 1,275,984 control chromosomes in the GnomAD database, including 79,184 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Genomes: 𝑓 0.29 ( 8300 hom., cov: 33)
Exomes 𝑓: 0.34 ( 70884 hom. )
Consequence
MYRF
NM_001127392.3 intron
NM_001127392.3 intron
Scores
2
Clinical Significance
Conservation
PhyloP100: -0.358
Genes affected
MYRF (HGNC:1181): (myelin regulatory factor) This gene encodes a transcription factor that is required for central nervous system myelination and may regulate oligodendrocyte differentiation. It is thought to act by increasing the expression of genes that effect myelin production but may also directly promote myelin gene expression. Loss of a similar gene in mouse models results in severe demyelination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -20 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.92).
BP6
Variant 11-61784455-A-C is Benign according to our data. Variant chr11-61784455-A-C is described in ClinVar as [Benign]. Clinvar id is 1259171.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.538 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MYRF | NM_001127392.3 | c.3300+70A>C | intron_variant | ENST00000278836.10 | NP_001120864.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MYRF | ENST00000278836.10 | c.3300+70A>C | intron_variant | 1 | NM_001127392.3 | ENSP00000278836.4 |
Frequencies
GnomAD3 genomes AF: 0.291 AC: 44312AN: 152050Hom.: 8277 Cov.: 33
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GnomAD4 exome AF: 0.341 AC: 383582AN: 1123816Hom.: 70884 Cov.: 15 AF XY: 0.335 AC XY: 190931AN XY: 570112
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GnomAD4 genome AF: 0.291 AC: 44344AN: 152168Hom.: 8300 Cov.: 33 AF XY: 0.297 AC XY: 22123AN XY: 74394
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ClinVar
Significance: Benign
Submissions summary: Benign:2
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | GeneDx | May 13, 2021 | - - |
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Computational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at