rs3088232
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_207189.4(BRDT):āc.1230C>Gā(p.Asn410Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.233 in 1,612,400 control chromosomes in the GnomAD database, including 46,807 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_207189.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BRDT | NM_207189.4 | c.1230C>G | p.Asn410Lys | missense_variant | 8/19 | ENST00000399546.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BRDT | ENST00000399546.7 | c.1230C>G | p.Asn410Lys | missense_variant | 8/19 | 2 | NM_207189.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.180 AC: 27430AN: 152018Hom.: 3122 Cov.: 32
GnomAD3 exomes AF: 0.212 AC: 52982AN: 250326Hom.: 6402 AF XY: 0.216 AC XY: 29189AN XY: 135340
GnomAD4 exome AF: 0.238 AC: 347928AN: 1460264Hom.: 43674 Cov.: 33 AF XY: 0.238 AC XY: 173238AN XY: 726406
GnomAD4 genome ? AF: 0.181 AC: 27462AN: 152136Hom.: 3133 Cov.: 32 AF XY: 0.179 AC XY: 13344AN XY: 74346
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at