rs727502906
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_ModerateBP6_ModerateBP7
The NM_001374258.1(BRAF):c.111G>C(p.Ser37=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000327 in 1,529,722 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 Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. S37S) has been classified as Likely benign.
Frequency
Consequence
NM_001374258.1 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BRAF | NM_001374258.1 | c.111G>C | p.Ser37= | synonymous_variant | 1/20 | ENST00000644969.2 | |
BRAF | NM_004333.6 | c.111G>C | p.Ser37= | synonymous_variant | 1/18 | ENST00000646891.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BRAF | ENST00000644969.2 | c.111G>C | p.Ser37= | synonymous_variant | 1/20 | NM_001374258.1 | |||
BRAF | ENST00000646891.2 | c.111G>C | p.Ser37= | synonymous_variant | 1/18 | NM_004333.6 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.0000198 AC: 3AN: 151674Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000786 AC: 1AN: 127182Hom.: 0 AF XY: 0.0000143 AC XY: 1AN XY: 69716
GnomAD4 exome AF: 0.00000145 AC: 2AN: 1378048Hom.: 0 Cov.: 32 AF XY: 0.00000147 AC XY: 1AN XY: 679856
GnomAD4 genome ? AF: 0.0000198 AC: 3AN: 151674Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74088
ClinVar
Submissions by phenotype
RASopathy Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Aug 20, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at