rs267608461
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_001110792.2(MECP2):c.413+18C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000597 in 1,172,579 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 2 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 Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MECP2 | NM_001110792.2 | c.413+18C>T | intron_variant | ENST00000453960.7 | |||
MECP2 | NM_004992.4 | c.377+18C>T | intron_variant | ENST00000303391.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MECP2 | ENST00000303391.11 | c.377+18C>T | intron_variant | 1 | NM_004992.4 | P1 | |||
MECP2 | ENST00000453960.7 | c.413+18C>T | intron_variant | 1 | NM_001110792.2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000885 AC: 1AN: 113028Hom.: 0 Cov.: 24 AF XY: 0.0000284 AC XY: 1AN XY: 35164
GnomAD4 exome AF: 0.00000566 AC: 6AN: 1059551Hom.: 0 Cov.: 26 AF XY: 0.00000302 AC XY: 1AN XY: 331207
GnomAD4 genome ? AF: 0.00000885 AC: 1AN: 113028Hom.: 0 Cov.: 24 AF XY: 0.0000284 AC XY: 1AN XY: 35164
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at