11-67436326-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005608.3(PTPRCAP):c.28G>A(p.Gly10Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000212 in 1,507,382 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G10W) has been classified as Uncertain significance.
Frequency
Consequence
NM_005608.3 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PTPRCAP | NM_005608.3 | c.28G>A | p.Gly10Arg | missense_variant | Exon 2 of 2 | ENST00000326294.4 | NP_005599.1 | |
CORO1B | NM_020441.3 | c.*2050G>A | 3_prime_UTR_variant | Exon 11 of 11 | ENST00000341356.10 | NP_065174.1 | ||
CORO1B | NM_001018070.3 | c.*2050G>A | 3_prime_UTR_variant | Exon 12 of 12 | NP_001018080.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PTPRCAP | ENST00000326294.4 | c.28G>A | p.Gly10Arg | missense_variant | Exon 2 of 2 | 1 | NM_005608.3 | ENSP00000325589.3 | ||
CORO1B | ENST00000341356 | c.*2050G>A | 3_prime_UTR_variant | Exon 11 of 11 | 1 | NM_020441.3 | ENSP00000340211.5 | |||
CORO1B | ENST00000616321.4 | n.*2782G>A | non_coding_transcript_exon_variant | Exon 11 of 11 | 2 | ENSP00000479949.1 | ||||
CORO1B | ENST00000616321.4 | n.*2782G>A | 3_prime_UTR_variant | Exon 11 of 11 | 2 | ENSP00000479949.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152196Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000477 AC: 5AN: 104904Hom.: 0 AF XY: 0.0000708 AC XY: 4AN XY: 56490
GnomAD4 exome AF: 0.0000229 AC: 31AN: 1355186Hom.: 0 Cov.: 31 AF XY: 0.0000271 AC XY: 18AN XY: 665240
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152196Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74352
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at