rs146606219
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS1
The NM_001349338.3(FOXP1):c.643C>T(p.Pro215Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000192 in 1,461,782 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P215A) has been classified as Likely benign.
Frequency
Consequence
NM_001349338.3 missense
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 |
---|---|---|---|---|---|---|---|
FOXP1 | NM_001349338.3 | c.643C>T | p.Pro215Ser | missense_variant | 10/21 | ENST00000649528.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FOXP1 | ENST00000649528.3 | c.643C>T | p.Pro215Ser | missense_variant | 10/21 | NM_001349338.3 | P4 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251026Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135640
GnomAD4 exome AF: 0.0000192 AC: 28AN: 1461782Hom.: 0 Cov.: 32 AF XY: 0.0000138 AC XY: 10AN XY: 727194
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at