rs142708991
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_000780.4(CYP7A1):c.1192C>G(p.Pro398Ala) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00433 in 1,613,906 control chromosomes in the GnomAD database, including 21 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_000780.4 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: 0.00290 AC: 441AN: 152084Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00341 AC: 858AN: 251488Hom.: 4 AF XY: 0.00361 AC XY: 490AN XY: 135920
GnomAD4 exome AF: 0.00448 AC: 6544AN: 1461704Hom.: 21 Cov.: 31 AF XY: 0.00445 AC XY: 3234AN XY: 727158
GnomAD4 genome AF: 0.00290 AC: 442AN: 152202Hom.: 0 Cov.: 32 AF XY: 0.00302 AC XY: 225AN XY: 74392
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:3
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CYP7A1: BS2 -
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not specified Benign:1
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CYP7A1-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