rs4785684
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The XR_007065184.1(LOC101927863):n.168C>T variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.454 in 365,506 control chromosomes in the GnomAD database, including 39,403 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.43 ( 14556 hom., cov: 33)
Exomes 𝑓: 0.47 ( 24847 hom. )
Consequence
LOC101927863
XR_007065184.1 non_coding_transcript_exon
XR_007065184.1 non_coding_transcript_exon
Scores
2
Clinical Significance
Conservation
PhyloP100: -0.217
Genes affected
SPG7 (HGNC:11237): (SPG7 matrix AAA peptidase subunit, paraplegin) This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2014]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -14 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.76).
BP6
?
Variant 16-89508168-G-A is Benign according to our data. Variant chr16-89508168-G-A is described in ClinVar as [Benign]. Clinvar id is 1261810.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
?
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.651 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC101927863 | XR_007065184.1 | n.168C>T | non_coding_transcript_exon_variant | 1/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SPG7 | ENST00000646303.1 | c.51+428G>A | intron_variant | ||||||
SPG7 | ENST00000647079.1 | c.-225-2322G>A | intron_variant |
Frequencies
GnomAD3 genomes ? AF: 0.429 AC: 65105AN: 151772Hom.: 14551 Cov.: 33
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GnomAD4 exome AF: 0.472 AC: 100770AN: 213628Hom.: 24847 Cov.: 2 AF XY: 0.474 AC XY: 51479AN XY: 108622
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GnomAD4 genome ? AF: 0.429 AC: 65126AN: 151878Hom.: 14556 Cov.: 33 AF XY: 0.434 AC XY: 32241AN XY: 74218
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jun 19, 2018 | - - |
Computational scores
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Name
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BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at