17-45821414-G-A
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_004382.5(CRHR1):c.301G>A(p.Glu101Lys) variant causes a missense change. The variant allele was found at a frequency of 0.0000446 in 1,612,992 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. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004382.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152240Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000282 AC: 7AN: 248170Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 134804
GnomAD4 exome AF: 0.0000479 AC: 70AN: 1460752Hom.: 0 Cov.: 31 AF XY: 0.0000482 AC XY: 35AN XY: 726714
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152240Hom.: 0 Cov.: 34 AF XY: 0.0000134 AC XY: 1AN XY: 74386
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.301G>A (p.E101K) alteration is located in exon 4 (coding exon 4) of the CRHR1 gene. This alteration results from a G to A substitution at nucleotide position 301, causing the glutamic acid (E) at amino acid position 101 to be replaced by a lysine (K). 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