9-92719269-G-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001003800.2(BICD2):c.1376C>A(p.Thr459Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,300 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001003800.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BICD2 | NM_001003800.2 | c.1376C>A | p.Thr459Lys | missense_variant | Exon 5 of 7 | ENST00000356884.11 | NP_001003800.1 | |
BICD2 | NM_015250.4 | c.1376C>A | p.Thr459Lys | missense_variant | Exon 5 of 8 | NP_056065.1 | ||
BICD2 | XM_017014551.2 | c.1457C>A | p.Thr486Lys | missense_variant | Exon 5 of 8 | XP_016870040.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BICD2 | ENST00000356884.11 | c.1376C>A | p.Thr459Lys | missense_variant | Exon 5 of 7 | 1 | NM_001003800.2 | ENSP00000349351.6 | ||
BICD2 | ENST00000375512.3 | c.1376C>A | p.Thr459Lys | missense_variant | Exon 5 of 8 | 1 | ENSP00000364662.3 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250388Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135496
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461300Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727008
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at