17-45830101-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001256299.3(LINC02210-CRHR1):c.-84C>T variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000031 in 1,613,992 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001256299.3 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LINC02210-CRHR1 | ENST00000634540 | c.-84C>T | 5_prime_UTR_premature_start_codon_gain_variant | Exon 8 of 15 | 2 | ENSP00000488912.1 | ||||
CRHR1 | ENST00000314537.10 | c.442C>T | p.Arg148Trp | missense_variant | Exon 6 of 13 | 1 | NM_004382.5 | ENSP00000326060.6 | ||
LINC02210-CRHR1 | ENST00000634540 | c.-84C>T | 5_prime_UTR_variant | Exon 8 of 15 | 2 | ENSP00000488912.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152176Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000802 AC: 2AN: 249424Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135322
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461816Hom.: 0 Cov.: 32 AF XY: 0.00000413 AC XY: 3AN XY: 727210
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152176Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74332
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.442C>T (p.R148W) alteration is located in exon 6 (coding exon 6) of the CRHR1 gene. This alteration results from a C to T substitution at nucleotide position 442, causing the arginine (R) at amino acid position 148 to be replaced by a tryptophan (W). 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