17-45821396-G-A
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_004382.5(CRHR1):c.283G>A(p.Ala95Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000459 in 1,613,352 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 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 Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000920 AC: 14AN: 152246Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000443 AC: 11AN: 248498Hom.: 0 AF XY: 0.0000519 AC XY: 7AN XY: 134942
GnomAD4 exome AF: 0.0000418 AC: 61AN: 1460988Hom.: 1 Cov.: 31 AF XY: 0.0000358 AC XY: 26AN XY: 726822
GnomAD4 genome AF: 0.0000853 AC: 13AN: 152364Hom.: 0 Cov.: 34 AF XY: 0.0000671 AC XY: 5AN XY: 74508
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.283G>A (p.A95T) 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 283, causing the alanine (A) at amino acid position 95 to be replaced by a threonine (T). 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