10-125833792-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_078468.3(BCCIP):c.620A>C(p.His207Pro) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,854 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_078468.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BCCIP | NM_078468.3 | c.620A>C | p.His207Pro | missense_variant | 6/7 | ENST00000278100.11 | |
BCCIP | NM_016567.4 | c.620A>C | p.His207Pro | missense_variant | 6/8 | ||
BCCIP | NM_078469.3 | c.620A>C | p.His207Pro | missense_variant | 6/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BCCIP | ENST00000278100.11 | c.620A>C | p.His207Pro | missense_variant | 6/7 | 1 | NM_078468.3 | P1 | |
BCCIP | ENST00000368759.5 | c.620A>C | p.His207Pro | missense_variant | 6/8 | 1 | |||
BCCIP | ENST00000299130.7 | c.620A>C | p.His207Pro | missense_variant | 6/7 | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461854Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727226
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 03, 2022 | The c.620A>C (p.H207P) alteration is located in exon 6 (coding exon 6) of the BCCIP gene. This alteration results from a A to C substitution at nucleotide position 620, causing the histidine (H) at amino acid position 207 to be replaced by a proline (P). 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
Publications
No publications associated with this variant yet.