chrX-153974136-G-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_003492.3(TMEM187):c.-214+1276G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.382 in 110,857 control chromosomes in the GnomAD database, including 7,987 homozygotes. There are 12,685 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_003492.3 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 |
---|---|---|---|---|---|---|---|
TMEM187 | NM_003492.3 | c.-214+1276G>T | intron_variant | ENST00000369982.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TMEM187 | ENST00000369982.5 | c.-214+1276G>T | intron_variant | 1 | NM_003492.3 | P1 | |||
TMEM187 | ENST00000425274.1 | c.-214+1250G>T | intron_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.382 AC: 42328AN: 110802Hom.: 7978 Cov.: 24 AF XY: 0.383 AC XY: 12635AN XY: 33032
GnomAD4 genome ? AF: 0.382 AC: 42391AN: 110857Hom.: 7987 Cov.: 24 AF XY: 0.383 AC XY: 12685AN XY: 33097
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at