NM_001387283.1:c.4939C>A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP7
The NM_001387283.1(SMARCA4):c.4939C>A(p.Arg1647Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. 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. R1647R) has been classified as Likely benign.
Frequency
Consequence
NM_001387283.1 synonymous
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SMARCA4 | NM_001387283.1 | c.4939C>A | p.Arg1647Arg | synonymous_variant | Exon 35 of 36 | ENST00000646693.2 | NP_001374212.1 | |
SMARCA4 | NM_003072.5 | c.4843C>A | p.Arg1615Arg | synonymous_variant | Exon 34 of 35 | ENST00000344626.10 | NP_003063.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SMARCA4 | ENST00000646693.2 | c.4939C>A | p.Arg1647Arg | synonymous_variant | Exon 35 of 36 | NM_001387283.1 | ENSP00000495368.1 | |||
SMARCA4 | ENST00000344626.10 | c.4843C>A | p.Arg1615Arg | synonymous_variant | Exon 34 of 35 | 1 | NM_003072.5 | ENSP00000343896.4 | ||
SMARCA4 | ENST00000643549.1 | c.4849C>A | p.Arg1617Arg | synonymous_variant | Exon 34 of 35 | ENSP00000493975.1 | ||||
SMARCA4 | ENST00000541122.6 | c.4753C>A | p.Arg1585Arg | synonymous_variant | Exon 34 of 35 | 5 | ENSP00000445036.2 | |||
SMARCA4 | ENST00000643296.1 | c.4753C>A | p.Arg1585Arg | synonymous_variant | Exon 33 of 34 | ENSP00000496635.1 | ||||
SMARCA4 | ENST00000644737.1 | c.4753C>A | p.Arg1585Arg | synonymous_variant | Exon 33 of 34 | ENSP00000495548.1 | ||||
SMARCA4 | ENST00000589677.5 | c.4750C>A | p.Arg1584Arg | synonymous_variant | Exon 34 of 35 | 5 | ENSP00000464778.1 | |||
SMARCA4 | ENST00000643995.1 | c.4264C>A | p.Arg1422Arg | synonymous_variant | Exon 31 of 32 | ENSP00000496004.1 | ||||
SMARCA4 | ENST00000644963.1 | c.3493C>A | p.Arg1165Arg | synonymous_variant | Exon 27 of 28 | ENSP00000495599.1 | ||||
SMARCA4 | ENST00000644065.1 | c.3475C>A | p.Arg1159Arg | synonymous_variant | Exon 26 of 27 | ENSP00000493615.1 | ||||
SMARCA4 | ENST00000642350.1 | c.3337C>A | p.Arg1113Arg | synonymous_variant | Exon 26 of 27 | ENSP00000495355.1 | ||||
SMARCA4 | ENST00000643857.1 | c.3103C>A | p.Arg1035Arg | synonymous_variant | Exon 24 of 25 | ENSP00000494159.1 | ||||
SMARCA4 | ENST00000538456.4 | c.907C>A | p.Arg303Arg | synonymous_variant | Exon 7 of 8 | 3 | ENSP00000495197.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 33
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.