chrX-47142212-C-T

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

Scores

2

Clinical Significance

Benign criteria provided, multiple submitters, no conflicts B:2

Conservation

PhyloP100: -0.145
Variant links:
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
NDUFB11NM_001135998.3 linkuse as main transcript downstream_gene_variant ENST00000377811.4
NDUFB11NM_019056.7 linkuse as main transcript downstream_gene_variant

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt
NDUFB11ENST00000377811.4 linkuse as main transcript downstream_gene_variant 1 NM_001135998.3 P1Q9NX14-1

Frequencies

GnomAD3 genomes
AF:
0.0303
AC:
3388
AN:
111687
Hom.:
152
Cov.:
22
AF XY:
0.0251
AC XY:
851
AN XY:
33869
show subpopulations
Gnomad AFR
AF:
0.105
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.0106
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.00
Gnomad FIN
AF:
0.00
Gnomad MID
AF:
0.00840
Gnomad NFE
AF:
0.000564
Gnomad OTH
AF:
0.0267
GnomAD4 exome
AF:
0.00329
AC:
3138
AN:
953761
Hom.:
105
Cov.:
17
AF XY:
0.00285
AC XY:
799
AN XY:
280667
show subpopulations
Gnomad4 AFR exome
AF:
0.108
Gnomad4 AMR exome
AF:
0.00649
Gnomad4 ASJ exome
AF:
0.0000621
Gnomad4 EAS exome
AF:
0.00
Gnomad4 SAS exome
AF:
0.000254
Gnomad4 FIN exome
AF:
0.00
Gnomad4 NFE exome
AF:
0.000165
Gnomad4 OTH exome
AF:
0.00813
GnomAD4 genome
AF:
0.0304
AC:
3394
AN:
111740
Hom.:
154
Cov.:
22
AF XY:
0.0252
AC XY:
854
AN XY:
33932
show subpopulations
Gnomad4 AFR
AF:
0.105
Gnomad4 AMR
AF:
0.0105
Gnomad4 ASJ
AF:
0.00
Gnomad4 EAS
AF:
0.00
Gnomad4 SAS
AF:
0.00
Gnomad4 FIN
AF:
0.00
Gnomad4 NFE
AF:
0.000564
Gnomad4 OTH
AF:
0.0263
Alfa
AF:
0.0172
Hom.:
73
Bravo
AF:
0.0348

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 submitterclinical testingGeneDxJul 09, 2018- -
Benign, criteria provided, single submitternot providedBreakthrough Genomics, Breakthrough Genomics-- -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.83
CADD
Benign
1.7
DANN
Benign
0.44

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs73630256; hg19: chrX-47001611; API