7-114094981-A-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000440349.5(FOXP2):c.-247+8370A>T variant causes a intron, NMD transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000132 in 151,958 control chromosomes in the GnomAD database, with no homozygous occurrence. 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
ENST00000440349.5 intron, NMD_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FOXP2 | NR_033766.2 | n.285+8370A>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FOXP2 | ENST00000440349.5 | c.-247+8370A>T | intron_variant, NMD_transcript_variant | 1 | |||||
FOXP2 | ENST00000635638.1 | c.-247+7143A>T | intron_variant | 5 | |||||
FOXP2 | ENST00000703612.1 | c.-247+8370A>T | intron_variant |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151958Hom.: 0 Cov.: 32
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151958Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74206
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at