chr21-39187080-A-T
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 3P and 4B. PM2PP2BP4_Strong
The ENST00000333229.6(BRWD1):c.6909T>A(p.Asn2303Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000232 in 1,595,776 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
ENST00000333229.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BRWD1 | NM_033656.4 | c.*9179T>A | 3_prime_UTR_variant | 41/41 | ENST00000342449.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BRWD1 | ENST00000333229.6 | c.6909T>A | p.Asn2303Lys | missense_variant | 42/42 | 1 | P2 | ||
BRWD1 | ENST00000342449.8 | c.*9179T>A | 3_prime_UTR_variant | 41/41 | 1 | NM_033656.4 | A2 |
Frequencies
GnomAD3 genomes AF: 0.000171 AC: 26AN: 152130Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000426 AC: 10AN: 234534Hom.: 0 AF XY: 0.0000552 AC XY: 7AN XY: 126794
GnomAD4 exome AF: 0.00000762 AC: 11AN: 1443646Hom.: 0 Cov.: 31 AF XY: 0.0000125 AC XY: 9AN XY: 717674
GnomAD4 genome AF: 0.000171 AC: 26AN: 152130Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74312
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 10, 2022 | The c.6909T>A (p.N2303K) alteration is located in exon 42 (coding exon 42) of the BRWD1 gene. This alteration results from a T to A substitution at nucleotide position 6909, causing the asparagine (N) at amino acid position 2303 to be replaced by a lysine (K). 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