chr11-71793380-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The ENST00000526393.5(ENSG00000291186):n.270C>T variant causes a splice region, non coding transcript exon change. The variant allele was found at a frequency of 0.00000137 in 1,458,742 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
ENST00000526393.5 splice_region, non_coding_transcript_exon
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FAM86C1P | XR_004643250.2 | n.264C>T | splice_region_variant, non_coding_transcript_exon_variant | Exon 4 of 8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000291186 | ENST00000526393.5 | n.270C>T | splice_region_variant, non_coding_transcript_exon_variant | Exon 4 of 5 | 1 | |||||
ENSG00000291186 | ENST00000346333.11 | n.216-2637C>T | intron_variant | Intron 2 of 3 | 1 | |||||
ENSG00000291186 | ENST00000510443.6 | n.391+1561C>T | intron_variant | Intron 3 of 4 | 1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1458742Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 725706
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.160C>T (p.H54Y) alteration is located in exon 3 (coding exon 3) of the FAM86C1 gene. This alteration results from a C to T substitution at nucleotide position 160, causing the histidine (H) at amino acid position 54 to be replaced by a tyrosine (Y). 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