rs373390083
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 3P and 4B. PM2PP2BP4_Strong
The NM_003072.5(SMARCA4):c.4249A>C(p.Ser1417Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_003072.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SMARCA4 | NM_001387283.1 | c.4345A>C | p.Ser1449Arg | missense_variant | 31/36 | ENST00000646693.2 | NP_001374212.1 | |
SMARCA4 | NM_003072.5 | c.4249A>C | p.Ser1417Arg | missense_variant | 30/35 | ENST00000344626.10 | NP_003063.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SMARCA4 | ENST00000646693.2 | c.4345A>C | p.Ser1449Arg | missense_variant | 31/36 | NM_001387283.1 | ENSP00000495368.1 | |||
SMARCA4 | ENST00000344626.10 | c.4249A>C | p.Ser1417Arg | missense_variant | 30/35 | 1 | NM_003072.5 | ENSP00000343896.4 | ||
SMARCA4 | ENST00000643549.1 | c.4255A>C | p.Ser1419Arg | missense_variant | 30/35 | ENSP00000493975.1 | ||||
SMARCA4 | ENST00000541122.6 | c.4159A>C | p.Ser1387Arg | missense_variant | 30/35 | 5 | ENSP00000445036.2 | |||
SMARCA4 | ENST00000643296.1 | c.4159A>C | p.Ser1387Arg | missense_variant | 29/34 | ENSP00000496635.1 | ||||
SMARCA4 | ENST00000644737.1 | c.4159A>C | p.Ser1387Arg | missense_variant | 29/34 | ENSP00000495548.1 | ||||
SMARCA4 | ENST00000589677.5 | c.4159A>C | p.Ser1387Arg | missense_variant | 30/35 | 5 | ENSP00000464778.1 | |||
SMARCA4 | ENST00000643995.1 | c.3670A>C | p.Ser1224Arg | missense_variant | 27/32 | ENSP00000496004.1 | ||||
SMARCA4 | ENST00000644963.1 | c.2902A>C | p.Ser968Arg | missense_variant | 23/28 | ENSP00000495599.1 | ||||
SMARCA4 | ENST00000644065.1 | c.2884A>C | p.Ser962Arg | missense_variant | 22/27 | ENSP00000493615.1 | ||||
SMARCA4 | ENST00000642350.1 | c.2743A>C | p.Ser915Arg | missense_variant | 22/27 | ENSP00000495355.1 | ||||
SMARCA4 | ENST00000643857.1 | c.2611A>C | p.Ser871Arg | missense_variant | 21/25 | ENSP00000494159.1 | ||||
SMARCA4 | ENST00000538456.4 | c.415A>C | p.Ser139Arg | missense_variant | 4/8 | 3 | ENSP00000495197.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
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.