11-66341247-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015399.4(BRMS1):c.317G>T(p.Gly106Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000211 in 1,613,428 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015399.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BRMS1 | NM_015399.4 | c.317G>T | p.Gly106Val | missense_variant | 4/10 | ENST00000359957.8 | |
BRMS1 | NM_001024957.2 | c.317G>T | p.Gly106Val | missense_variant | 4/10 | ||
BRMS1 | XM_024448425.2 | c.317G>T | p.Gly106Val | missense_variant | 4/9 | ||
BRMS1 | XM_024448426.2 | c.317G>T | p.Gly106Val | missense_variant | 4/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BRMS1 | ENST00000359957.8 | c.317G>T | p.Gly106Val | missense_variant | 4/10 | 1 | NM_015399.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000105 AC: 16AN: 152162Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000200 AC: 5AN: 250622Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135588
GnomAD4 exome AF: 0.0000123 AC: 18AN: 1461266Hom.: 0 Cov.: 36 AF XY: 0.00000963 AC XY: 7AN XY: 726834
GnomAD4 genome ? AF: 0.000105 AC: 16AN: 152162Hom.: 0 Cov.: 32 AF XY: 0.000135 AC XY: 10AN XY: 74328
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 28, 2023 | The c.317G>T (p.G106V) alteration is located in exon 4 (coding exon 3) of the BRMS1 gene. This alteration results from a G to T substitution at nucleotide position 317, causing the glycine (G) at amino acid position 106 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at