rs756474511
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP2BP4_Moderate
The NM_003072.5(SMARCA4):c.1019C>G(p.Ala340Gly) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. 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. A340V) has been classified as Likely benign.
Frequency
Consequence
NM_003072.5 missense
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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SMARCA4 | NM_001387283.1 | c.1019C>G | p.Ala340Gly | missense_variant | 6/36 | ENST00000646693.2 | NP_001374212.1 | |
SMARCA4 | NM_003072.5 | c.1019C>G | p.Ala340Gly | missense_variant | 6/35 | ENST00000344626.10 | NP_003063.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SMARCA4 | ENST00000646693.2 | c.1019C>G | p.Ala340Gly | missense_variant | 6/36 | NM_001387283.1 | ENSP00000495368.1 | |||
SMARCA4 | ENST00000344626.10 | c.1019C>G | p.Ala340Gly | missense_variant | 6/35 | 1 | NM_003072.5 | ENSP00000343896.4 | ||
SMARCA4 | ENST00000643549.1 | c.1019C>G | p.Ala340Gly | missense_variant | 6/35 | ENSP00000493975.1 | ||||
SMARCA4 | ENST00000541122.6 | c.1019C>G | p.Ala340Gly | missense_variant | 7/35 | 5 | ENSP00000445036.2 | |||
SMARCA4 | ENST00000643296.1 | c.1019C>G | p.Ala340Gly | missense_variant | 6/34 | ENSP00000496635.1 | ||||
SMARCA4 | ENST00000644737.1 | c.1019C>G | p.Ala340Gly | missense_variant | 6/34 | ENSP00000495548.1 | ||||
SMARCA4 | ENST00000589677.5 | c.1019C>G | p.Ala340Gly | missense_variant | 7/35 | 5 | ENSP00000464778.1 | |||
SMARCA4 | ENST00000643995.1 | c.431C>G | p.Ala144Gly | missense_variant | 3/32 | ENSP00000496004.1 |
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.