rs1555753627
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP3
The NM_001387283.1(SMARCA4):c.695_696insCGGCCCTGGCCC(p.Gly241_Pro244dup) variant causes a inframe insertion change. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P230P) has been classified as Likely benign.
Frequency
Consequence
NM_001387283.1 inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SMARCA4 | NM_001387283.1 | c.695_696insCGGCCCTGGCCC | p.Gly241_Pro244dup | inframe_insertion | 4/36 | ENST00000646693.2 | |
SMARCA4 | NM_003072.5 | c.695_696insCGGCCCTGGCCC | p.Gly241_Pro244dup | inframe_insertion | 4/35 | ENST00000344626.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SMARCA4 | ENST00000344626.10 | c.695_696insCGGCCCTGGCCC | p.Gly241_Pro244dup | inframe_insertion | 4/35 | 1 | NM_003072.5 | P4 | |
SMARCA4 | ENST00000646693.2 | c.695_696insCGGCCCTGGCCC | p.Gly241_Pro244dup | inframe_insertion | 4/36 | NM_001387283.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 34
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.