1-47775321-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001194986.2(TRABD2B):c.1198G>A(p.Asp400Asn) variant causes a missense change. The variant allele was found at a frequency of 0.000198 in 1,246,028 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001194986.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000256 AC: 39AN: 152194Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000281 AC: 3AN: 10690Hom.: 0 AF XY: 0.000555 AC XY: 3AN XY: 5408
GnomAD4 exome AF: 0.000190 AC: 208AN: 1093716Hom.: 0 Cov.: 31 AF XY: 0.000208 AC XY: 108AN XY: 518246
GnomAD4 genome AF: 0.000256 AC: 39AN: 152312Hom.: 0 Cov.: 33 AF XY: 0.000228 AC XY: 17AN XY: 74458
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1198G>A (p.D400N) alteration is located in exon 6 (coding exon 6) of the TRABD2B gene. This alteration results from a G to A substitution at nucleotide position 1198, causing the aspartic acid (D) at amino acid position 400 to be replaced by an asparagine (N). 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