rs183796305
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001388459.1(FRMPD3):c.290C>A(p.Thr97Asn) variant causes a missense change. The variant allele was found at a frequency of 0.00000366 in 1,092,494 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 3 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T97S) has been classified as Likely benign.
Frequency
Consequence
NM_001388459.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FRMPD3 | NM_001388459.1 | c.290C>A | p.Thr97Asn | missense_variant | Exon 4 of 15 | ENST00000683843.1 | NP_001375388.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FRMPD3 | ENST00000683843.1 | c.290C>A | p.Thr97Asn | missense_variant | Exon 4 of 15 | NM_001388459.1 | ENSP00000507942.1 |
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD4 exome AF: 0.00000366 AC: 4AN: 1092494Hom.: 0 Cov.: 28 AF XY: 0.00000836 AC XY: 3AN XY: 358716
GnomAD4 genome Cov.: 23
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.