3-66220945-G-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBS1BS2
The NM_173471.4(SLC25A26):c.-150G>T variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00168 in 825,986 control chromosomes in the GnomAD database, including 19 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Genomes: 𝑓 0.0061 ( 11 hom., cov: 33)
Exomes 𝑓: 0.00069 ( 8 hom. )
Consequence
SLC25A26
NM_173471.4 5_prime_UTR
NM_173471.4 5_prime_UTR
Scores
2
Clinical Significance
Conservation
PhyloP100: 0.224
Genes affected
SLC25A26 (HGNC:20661): (solute carrier family 25 member 26) This gene is a member of the mitochondrial carrier family which includes nuclear-encoded transporters localized on the inner mitochondrial membranes. Members of the family transport important small molecules across the mitochondrial inner membrane. This protein is involved in the transport of S-adenosylmethionine (SAM) into the mitochondria. Mutations in this gene are associated with combined oxidative phosphorylation deficiency 28. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2017]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -10 ACMG points.
BP6
?
Variant 3-66220945-G-T is Benign according to our data. Variant chr3-66220945-G-T is described in ClinVar as [Likely_benign]. Clinvar id is 1316778.Status of the report is criteria_provided_single_submitter, 1 stars.
BS1
?
Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.00606 (923/152326) while in subpopulation AFR AF= 0.0214 (888/41586). AF 95% confidence interval is 0.0202. There are 11 homozygotes in gnomad4. There are 417 alleles in male gnomad4 subpopulation. Median coverage is 33. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd at 11 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC25A26 | NM_001164796.1 | c.-257G>T | 5_prime_UTR_variant | 1/9 | |||
SLC25A26 | NM_001350993.1 | c.-501G>T | 5_prime_UTR_variant | 1/11 | |||
SLC25A26 | NM_173471.4 | c.-150G>T | 5_prime_UTR_variant | 2/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC25A26 | ENST00000676754.1 | c.-150G>T | 5_prime_UTR_variant | 2/11 | P1 | ||||
SLC25A26 | ENST00000686511.1 | c.-232+87G>T | intron_variant | ||||||
SLC25A26 | ENST00000689520.1 | c.-501G>T | 5_prime_UTR_variant, NMD_transcript_variant | 1/12 |
Frequencies
GnomAD3 genomes ? AF: 0.00604 AC: 919AN: 152208Hom.: 11 Cov.: 33
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GnomAD4 exome AF: 0.000693 AC: 467AN: 673660Hom.: 8 Cov.: 9 AF XY: 0.000611 AC XY: 218AN XY: 356870
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ClinVar
Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Jul 27, 2018 | - - |
Computational scores
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Name
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BayesDel_noAF
Benign
Cadd
Benign
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Benign
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Details are displayed if max score is > 0.2
DS_AG_spliceai
Position offset: 15
Find out detailed SpliceAI scores and Pangolin per-transcript scores at