rs860759
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001368395.3(FRMPD4):c.152+120737G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.092 in 111,274 control chromosomes in the GnomAD database, including 488 homozygotes. There are 2,806 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_001368395.3 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 |
---|---|---|---|---|---|---|---|
FRMPD4 | NM_001368395.3 | c.152+120737G>T | intron_variant | ||||
FRMPD4 | NM_001368398.3 | c.152+120737G>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FRMPD4 | ENST00000640291.2 | c.95+120737G>T | intron_variant | 5 | A2 | ||||
FRMPD4 | ENST00000656302.1 | c.95+120737G>T | intron_variant | ||||||
FRMPD4 | ENST00000672869.2 | c.95+120737G>T | intron_variant | ||||||
FRMPD4 | ENST00000673271.2 | n.597+120737G>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0920 AC: 10238AN: 111223Hom.: 489 Cov.: 23 AF XY: 0.0836 AC XY: 2803AN XY: 33527
GnomAD4 genome ? AF: 0.0920 AC: 10237AN: 111274Hom.: 488 Cov.: 23 AF XY: 0.0835 AC XY: 2806AN XY: 33588
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at