chrX-12718763-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_001368397.1(FRMPD4):c.3937C>T(p.Arg1313Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000125 in 1,198,730 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 6 hemizygotes in GnomAD. 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. R1313Q) has been classified as Likely benign.
Frequency
Consequence
NM_001368397.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FRMPD4 | NM_001368397.1 | c.3937C>T | p.Arg1313Trp | missense_variant | 16/17 | ENST00000675598.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FRMPD4 | ENST00000675598.1 | c.3937C>T | p.Arg1313Trp | missense_variant | 16/17 | NM_001368397.1 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000893 AC: 1AN: 111968Hom.: 0 Cov.: 23 AF XY: 0.0000293 AC XY: 1AN XY: 34140
GnomAD3 exomes AF: 0.00000558 AC: 1AN: 179217Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 65499
GnomAD4 exome AF: 0.0000129 AC: 14AN: 1086762Hom.: 0 Cov.: 29 AF XY: 0.0000142 AC XY: 5AN XY: 352790
GnomAD4 genome ? AF: 0.00000893 AC: 1AN: 111968Hom.: 0 Cov.: 23 AF XY: 0.0000293 AC XY: 1AN XY: 34140
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at