9-92764654-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001003800.2(BICD2):c.91C>A(p.His31Asn) variant causes a missense change. The variant allele was found at a frequency of 0.000000694 in 1,439,976 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts 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 Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BICD2 | NM_001003800.2 | c.91C>A | p.His31Asn | missense_variant | Exon 1 of 7 | ENST00000356884.11 | NP_001003800.1 | |
BICD2 | NM_015250.4 | c.91C>A | p.His31Asn | missense_variant | Exon 1 of 8 | NP_056065.1 | ||
BICD2 | XM_017014551.2 | c.91C>A | p.His31Asn | missense_variant | Exon 1 of 8 | XP_016870040.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.94e-7 AC: 1AN: 1439976Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 714868
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.