chr19-10986498-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 3P and 1B. PM2PP2BP4
The NM_001387283.1(SMARCA4):āc.665C>Gā(p.Pro222Arg) variant causes a missense change. The variant allele was found at a frequency of 0.000000716 in 1,395,742 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. P222L) has been classified as Likely benign.
Frequency
Consequence
NM_001387283.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SMARCA4 | NM_001387283.1 | c.665C>G | p.Pro222Arg | missense_variant | 4/36 | ENST00000646693.2 | |
SMARCA4 | NM_003072.5 | c.665C>G | p.Pro222Arg | missense_variant | 4/35 | ENST00000344626.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SMARCA4 | ENST00000646693.2 | c.665C>G | p.Pro222Arg | missense_variant | 4/36 | NM_001387283.1 | |||
SMARCA4 | ENST00000344626.10 | c.665C>G | p.Pro222Arg | missense_variant | 4/35 | 1 | NM_003072.5 | P4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 7.16e-7 AC: 1AN: 1395742Hom.: 0 Cov.: 34 AF XY: 0.00000145 AC XY: 1AN XY: 688740
GnomAD4 genome Cov.: 32
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.