9-2029048-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 1P and 7B. PP2BP4_ModerateBS1_SupportingBS2
The NM_003070.5(SMARCA2):c.26C>T(p.Ala9Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000148 in 1,553,526 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. A9A) has been classified as Likely benign.
Frequency
Consequence
NM_003070.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SMARCA2 | NM_003070.5 | c.26C>T | p.Ala9Val | missense_variant | Exon 2 of 34 | ENST00000349721.8 | NP_003061.3 | |
SMARCA2 | NM_001289396.2 | c.26C>T | p.Ala9Val | missense_variant | Exon 2 of 34 | NP_001276325.1 | ||
SMARCA2 | NM_139045.4 | c.26C>T | p.Ala9Val | missense_variant | Exon 2 of 33 | NP_620614.2 | ||
SMARCA2 | NM_001289397.2 | c.26C>T | p.Ala9Val | missense_variant | Exon 2 of 33 | NP_001276326.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152264Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000317 AC: 5AN: 157640Hom.: 0 AF XY: 0.0000238 AC XY: 2AN XY: 84110
GnomAD4 exome AF: 0.0000143 AC: 20AN: 1401262Hom.: 0 Cov.: 32 AF XY: 0.0000202 AC XY: 14AN XY: 691702
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152264Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74394
ClinVar
Submissions by phenotype
not provided Uncertain:1
SMARCA2: PP2 -
Nicolaides-Baraitser syndrome Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at