rs11156611
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001110792.2(MECP2):c.62+18882C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0891 in 111,554 control chromosomes in the GnomAD database, including 563 homozygotes. There are 2,671 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001110792.2 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MECP2 | NM_001110792.2 | c.62+18882C>T | intron_variant | ENST00000453960.7 | |||
MECP2 | NM_004992.4 | c.26+13462C>T | intron_variant | ENST00000303391.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MECP2 | ENST00000303391.11 | c.26+13462C>T | intron_variant | 1 | NM_004992.4 | P1 | |||
MECP2 | ENST00000453960.7 | c.62+18882C>T | intron_variant | 1 | NM_001110792.2 |
Frequencies
GnomAD3 genomes ? AF: 0.0889 AC: 9907AN: 111502Hom.: 560 Cov.: 23 AF XY: 0.0789 AC XY: 2658AN XY: 33704
GnomAD4 genome ? AF: 0.0891 AC: 9935AN: 111554Hom.: 563 Cov.: 23 AF XY: 0.0791 AC XY: 2671AN XY: 33766
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at