ENST00000398285.7:c.488C>A
Variant summary
Our verdict is Benign. The variant received -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The ENST00000398285.7(CRHR1):c.488C>A(p.Ala163Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000248 in 1,551,054 control chromosomes in the GnomAD database, including 6 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/22 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A163S) has been classified as Likely benign.
Frequency
Consequence
ENST00000398285.7 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152134Hom.: 0 Cov.: 33 show subpopulations
GnomAD2 exomes AF: 0.000670 AC: 103AN: 153740 AF XY: 0.000968 show subpopulations
GnomAD4 exome AF: 0.000264 AC: 369AN: 1398802Hom.: 6 Cov.: 32 AF XY: 0.000378 AC XY: 261AN XY: 689926 show subpopulations
GnomAD4 genome AF: 0.000105 AC: 16AN: 152252Hom.: 0 Cov.: 33 AF XY: 0.000202 AC XY: 15AN XY: 74428 show subpopulations
ClinVar
Submissions by phenotype
CRHR1-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at