12-32305742-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001714.4(BICD1):c.625G>C(p.Glu209Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000106 in 1,614,050 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_001714.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BICD1 | ENST00000652176.1 | c.625G>C | p.Glu209Gln | missense_variant | Exon 4 of 10 | NM_001714.4 | ENSP00000498700.1 | |||
BICD1 | ENST00000548411.6 | c.625G>C | p.Glu209Gln | missense_variant | Exon 4 of 9 | 1 | ENSP00000446793.1 | |||
BICD1 | ENST00000395758.3 | n.625G>C | non_coding_transcript_exon_variant | Exon 4 of 10 | 1 | ENSP00000379107.3 |
Frequencies
GnomAD3 genomes AF: 0.000184 AC: 28AN: 152140Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000131 AC: 33AN: 251168Hom.: 0 AF XY: 0.000133 AC XY: 18AN XY: 135778
GnomAD4 exome AF: 0.0000978 AC: 143AN: 1461792Hom.: 0 Cov.: 31 AF XY: 0.0000935 AC XY: 68AN XY: 727210
GnomAD4 genome AF: 0.000184 AC: 28AN: 152258Hom.: 0 Cov.: 32 AF XY: 0.000228 AC XY: 17AN XY: 74450
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.625G>C (p.E209Q) alteration is located in exon 4 (coding exon 4) of the BICD1 gene. This alteration results from a G to C substitution at nucleotide position 625, causing the glutamic acid (E) at amino acid position 209 to be replaced by a glutamine (Q). 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