rs201509539
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 2P and 10B. PM2BP4_StrongBP6_ModerateBS1
The NM_002838.5(PTPRC):c.1864+8T>C variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000937 in 1,603,792 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 2/2 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_002838.5 splice_region, intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PTPRC | NM_002838.5 | c.1864+8T>C | splice_region_variant, intron_variant | ENST00000442510.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PTPRC | ENST00000442510.8 | c.1864+8T>C | splice_region_variant, intron_variant | 1 | NM_002838.5 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.000552 AC: 84AN: 152166Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000360 AC: 88AN: 244516Hom.: 0 AF XY: 0.000264 AC XY: 35AN XY: 132490
GnomAD4 exome AF: 0.000978 AC: 1419AN: 1451508Hom.: 1 Cov.: 30 AF XY: 0.000923 AC XY: 666AN XY: 721752
GnomAD4 genome ? AF: 0.000552 AC: 84AN: 152284Hom.: 0 Cov.: 31 AF XY: 0.000457 AC XY: 34AN XY: 74456
ClinVar
Submissions by phenotype
Immunodeficiency 104 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at