12-12435649-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 4P and 1B. PM1PM2BP4
The NM_058169.6(BORCS5):c.224C>T(p.Ser75Phe) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,461,520 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
Genomes: not found (cov: 32)
Exomes 𝑓: 0.0000014 ( 0 hom. )
Consequence
BORCS5
NM_058169.6 missense
NM_058169.6 missense
Scores
1
4
11
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 5.80
Genes affected
BORCS5 (HGNC:17950): (BLOC-1 related complex subunit 5) Involved in lysosome localization and organelle transport along microtubule. Located in cytoplasmic side of lysosomal membrane and plasma membrane. Is intrinsic component of membrane. Part of BORC complex. Colocalizes with plus-end kinesin complex. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 3 ACMG points.
PM1
?
In a modified_residue Phosphoserine (size 0) in uniprot entity BORC5_HUMAN
PM2
?
Very rare variant in population databases, with high coverage;
BP4
?
Computational evidence support a benign effect (MetaRNN=0.38357204).
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BORCS5 | NM_058169.6 | c.224C>T | p.Ser75Phe | missense_variant | 3/4 | ENST00000314565.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BORCS5 | ENST00000314565.9 | c.224C>T | p.Ser75Phe | missense_variant | 3/4 | 1 | NM_058169.6 | P1 | |
BORCS5 | ENST00000298571.6 | c.80C>T | p.Ser27Phe | missense_variant | 2/3 | 1 | |||
BORCS5 | ENST00000542728.5 | c.167C>T | p.Ser56Phe | missense_variant | 3/4 | 3 | |||
BORCS5 | ENST00000543990.1 | n.318C>T | non_coding_transcript_exon_variant | 3/3 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 genomes
?
Cov.:
32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 250972Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135676
GnomAD3 exomes
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1
AN:
250972
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AN XY:
135676
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GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461520Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 727056
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1461520
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727056
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GnomAD4 genome ? Cov.: 32
GnomAD4 genome
?
Cov.:
32
ExAC
?
AF:
AC:
1
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
BayesDel_addAF
Benign
T
BayesDel_noAF
Benign
Cadd
Benign
Dann
Uncertain
DEOGEN2
Benign
T;T;.
Eigen
Uncertain
Eigen_PC
Uncertain
FATHMM_MKL
Pathogenic
D
M_CAP
Benign
D
MetaRNN
Benign
T;T;T
MetaSVM
Benign
T
MutationTaster
Benign
D;D
PrimateAI
Uncertain
T
PROVEAN
Benign
N;N;N
REVEL
Benign
Sift
Benign
T;T;D
Polyphen
0.99, 0.0
.;D;B
Vest4
MutPred
0.54
.;Gain of catalytic residue at G72 (P = 5e-04);.;
MVP
MPC
1.0
ClinPred
D
GERP RS
RBP_binding_hub_radar
RBP_regulation_power_radar
Varity_R
gMVP
Splicing
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Calibrated prediction
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at