rs184407021
Positions:
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The variant allele was found at a frequency of 0.00326 in 113,139 control chromosomes in the GnomAD database, including 1 homozygotes. There are 102 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Genomes: 𝑓 0.0033 ( 1 hom., 102 hem., cov: 25)
Consequence
Unknown
Scores
2
Clinical Significance
Conservation
PhyloP100: -0.0410
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.84).
BP6
?
Variant X-18425432-C-G is Benign according to our data. Variant chrX-18425432-C-G is described in ClinVar as [Benign]. Clinvar id is 189539.Status of the report is no_assertion_criteria_provided, 0 stars.
BS2
?
High Hemizygotes in GnomAd4 at 102 gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
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Frequencies
GnomAD3 genomes ? AF: 0.00327 AC: 370AN: 113089Hom.: 1 Cov.: 25 AF XY: 0.00289 AC XY: 102AN XY: 35239
GnomAD3 genomes
?
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370
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113089
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25
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102
AN XY:
35239
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.00326 AC: 369AN: 113139Hom.: 1 Cov.: 25 AF XY: 0.00289 AC XY: 102AN XY: 35299
GnomAD4 genome
?
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AC:
369
AN:
113139
Hom.:
Cov.:
25
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AC XY:
102
AN XY:
35299
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: no assertion criteria provided
LINK: link
Submissions by phenotype
not specified Benign:1
Benign, no assertion criteria provided | curation | RettBASE | May 09, 2014 | Found in normal population - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at