chr2-182834857-G-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001463.4(FRZB):c.970C>A(p.Arg324Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000397 in 1,611,408 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict 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. R324G) has been classified as Benign.
Frequency
Consequence
NM_001463.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FRZB | NM_001463.4 | c.970C>A | p.Arg324Ser | missense_variant | 6/6 | ENST00000295113.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FRZB | ENST00000295113.5 | c.970C>A | p.Arg324Ser | missense_variant | 6/6 | 1 | NM_001463.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000460 AC: 7AN: 152018Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000558 AC: 14AN: 250924Hom.: 0 AF XY: 0.0000516 AC XY: 7AN XY: 135600
GnomAD4 exome AF: 0.0000391 AC: 57AN: 1459390Hom.: 0 Cov.: 30 AF XY: 0.0000441 AC XY: 32AN XY: 726150
GnomAD4 genome ? AF: 0.0000460 AC: 7AN: 152018Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74250
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at