chr10-102862887-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001136200.2(BORCS7):c.284C>T(p.Ser95Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000059 in 1,608,890 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 10/17 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001136200.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BORCS7 | NM_001136200.2 | c.284C>T | p.Ser95Leu | missense_variant | 5/5 | ENST00000339834.10 | |
BORCS7-ASMT | NR_037644.1 | n.361C>T | non_coding_transcript_exon_variant | 5/15 | |||
BORCS7 | NM_144591.5 | c.284C>T | p.Ser95Leu | missense_variant | 5/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BORCS7 | ENST00000339834.10 | c.284C>T | p.Ser95Leu | missense_variant | 5/5 | 1 | NM_001136200.2 | P1 | |
BORCS7 | ENST00000369883.3 | c.284C>T | p.Ser95Leu | missense_variant | 5/6 | 1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152166Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000481 AC: 12AN: 249706Hom.: 0 AF XY: 0.0000666 AC XY: 9AN XY: 135180
GnomAD4 exome AF: 0.0000611 AC: 89AN: 1456724Hom.: 0 Cov.: 29 AF XY: 0.0000634 AC XY: 46AN XY: 724998
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152166Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74330
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 17, 2023 | The c.284C>T (p.S95L) alteration is located in exon 5 (coding exon 5) of the BORCS7 gene. This alteration results from a C to T substitution at nucleotide position 284, causing the serine (S) at amino acid position 95 to be replaced by a leucine (L). 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