chrX-47142212-C-T
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Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The ENST00000687244.1(NDUFB11):c.*105G>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00613 in 1,065,501 control chromosomes in the GnomAD database, including 259 homozygotes. There are 1,653 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Genomes: 𝑓 0.030 ( 154 hom., 854 hem., cov: 22)
Exomes 𝑓: 0.0033 ( 105 hom. 799 hem. )
Consequence
NDUFB11
ENST00000687244.1 3_prime_UTR
ENST00000687244.1 3_prime_UTR
Scores
2
Clinical Significance
Conservation
PhyloP100: -0.145
Genes affected
NDUFB11 (HGNC:20372): (NADH:ubiquinone oxidoreductase subunit B11) The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to ubiquinone. Mutations in the human gene are associated with linear skin defects with multiple congenital anomalies 3 and mitochondrial complex I deficiency. [provided by RefSeq, Dec 2016]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -20 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.83).
BP6
Variant X-47142212-C-T is Benign according to our data. Variant chrX-47142212-C-T is described in ClinVar as [Benign]. Clinvar id is 1284247.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.102 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NDUFB11 | NM_001135998.3 | downstream_gene_variant | ENST00000377811.4 | ||||
NDUFB11 | NM_019056.7 | downstream_gene_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NDUFB11 | ENST00000377811.4 | downstream_gene_variant | 1 | NM_001135998.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0303 AC: 3388AN: 111687Hom.: 152 Cov.: 22 AF XY: 0.0251 AC XY: 851AN XY: 33869
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GnomAD4 exome AF: 0.00329 AC: 3138AN: 953761Hom.: 105 Cov.: 17 AF XY: 0.00285 AC XY: 799AN XY: 280667
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GnomAD4 genome AF: 0.0304 AC: 3394AN: 111740Hom.: 154 Cov.: 22 AF XY: 0.0252 AC XY: 854AN XY: 33932
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ClinVar
Significance: Benign
Submissions summary: Benign:2
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jul 09, 2018 | - - |
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Computational scores
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Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at