6-105115799-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001199563.2(BVES):c.845G>A(p.Ser282Asn) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,562 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001199563.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BVES | NM_001199563.2 | c.845G>A | p.Ser282Asn | missense_variant | Exon 7 of 8 | ENST00000314641.10 | NP_001186492.1 | |
BVES | NM_007073.4 | c.845G>A | p.Ser282Asn | missense_variant | Exon 7 of 8 | NP_009004.2 | ||
BVES | NM_147147.4 | c.845G>A | p.Ser282Asn | missense_variant | Exon 7 of 8 | NP_671488.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BVES | ENST00000314641.10 | c.845G>A | p.Ser282Asn | missense_variant | Exon 7 of 8 | 1 | NM_001199563.2 | ENSP00000313172.5 | ||
BVES | ENST00000336775.9 | c.845G>A | p.Ser282Asn | missense_variant | Exon 7 of 8 | 1 | ENSP00000337259.5 | |||
BVES | ENST00000446408.2 | c.845G>A | p.Ser282Asn | missense_variant | Exon 7 of 8 | 1 | ENSP00000397310.2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461562Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 727102
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
BVES-related disorder Uncertain:1
The BVES c.845G>A variant is predicted to result in the amino acid substitution p.Ser282Asn. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.