chr12-111679291-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006768.5(BRAP):āc.493A>Gā(p.Ile165Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000688 in 1,453,738 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_006768.5 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 |
---|---|---|---|---|---|---|---|
BRAP | NM_006768.5 | c.493A>G | p.Ile165Val | missense_variant | 4/12 | ENST00000419234.9 | |
BRAP | XM_005253944.5 | c.616A>G | p.Ile206Val | missense_variant | 4/12 | ||
BRAP | XM_017019992.2 | c.331A>G | p.Ile111Val | missense_variant | 3/11 | ||
BRAP | XM_047429622.1 | c.46A>G | p.Ile16Val | missense_variant | 2/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BRAP | ENST00000419234.9 | c.493A>G | p.Ile165Val | missense_variant | 4/12 | 1 | NM_006768.5 | P1 | |
BRAP | ENST00000327551.6 | c.403A>G | p.Ile135Val | missense_variant | 4/12 | 1 |
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome AF: 6.88e-7 AC: 1AN: 1453738Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 722446
GnomAD4 genome Cov.: 30
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 22, 2023 | The c.493A>G (p.I165V) alteration is located in exon 4 (coding exon 4) of the BRAP gene. This alteration results from a A to G substitution at nucleotide position 493, causing the isoleucine (I) at amino acid position 165 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
Publications
No publications associated with this variant yet.