rs5742910
Positions:
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBA1
The variant allele was found at a frequency of 0.175 in 152,174 control chromosomes in the GnomAD database, including 2,907 homozygotes. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.18 ( 2907 hom., cov: 28)
Consequence
Unknown
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: -0.243
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
BP6
?
Variant 13-113105516-T-TTCCTATATCC is Benign according to our data. Variant chr13-113105516-T-TTCCTATATCC is described in ClinVar as [Benign]. Clinvar id is 12079.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
?
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.299 is higher than 0.05.
Transcripts
RefSeq
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Ensembl
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Frequencies
GnomAD3 genomes ? AF: 0.175 AC: 26632AN: 152056Hom.: 2899 Cov.: 28
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28
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.175 AC: 26673AN: 152174Hom.: 2907 Cov.: 28 AF XY: 0.174 AC XY: 12964AN XY: 74422
GnomAD4 genome
?
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AC:
26673
AN:
152174
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28
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12964
AN XY:
74422
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Asia WGS
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571
AN:
3478
ClinVar
Significance: Benign
Submissions summary: Benign:1Other:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Aug 29, 2022 | See Variant Classification Assertion Criteria. - |
Myocardial infarction, decreased susceptibility to Other:1
risk factor, no assertion criteria provided | literature only | OMIM | Sep 14, 2000 | - - |
Computational scores
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Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at