chr11-72195263-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_016729.3(FOLR1):c.169-8C>T variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,380 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_016729.3 splice_region, splice_polypyrimidine_tract, intron
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 |
---|---|---|---|---|---|---|---|
FOLR1 | NM_016729.3 | c.169-8C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000393676.5 | |||
FOLR1 | NM_000802.3 | c.169-8C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ||||
FOLR1 | NM_016724.3 | c.169-8C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ||||
FOLR1 | NM_016725.3 | c.169-8C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FOLR1 | ENST00000393676.5 | c.169-8C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_016729.3 | P1 | |||
ENST00000378140.3 | n.419+3250G>A | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251394Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135910
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461380Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 727046
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at