chr1-156042789-G-A
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Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_ModerateBP6_ModerateBP7BS2
The NM_020131.5(UBQLN4):c.1251C>T(p.Pro417=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000534 in 1,614,016 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Genomes: 𝑓 0.00041 ( 0 hom., cov: 32)
Exomes 𝑓: 0.00055 ( 0 hom. )
Consequence
UBQLN4
NM_020131.5 synonymous
NM_020131.5 synonymous
Scores
2
Clinical Significance
Conservation
PhyloP100: -1.24
Genes affected
UBQLN4 (HGNC:1237): (ubiquilin 4) Enables K48-linked polyubiquitin modification-dependent protein binding activity and identical protein binding activity. Involved in cellular response to DNA damage stimulus; negative regulation of double-strand break repair via homologous recombination; and regulation of cellular catabolic process. Located in several cellular components, including autophagosome; nucleoplasm; and site of DNA damage. Part of protein-containing complex. Colocalizes with cytosolic proteasome complex and nuclear proteasome complex. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -9 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.46).
BP6
Variant 1-156042789-G-A is Benign according to our data. Variant chr1-156042789-G-A is described in ClinVar as [Likely_benign]. Clinvar id is 711055.Status of the report is criteria_provided_single_submitter, 1 stars.
BP7
Synonymous conserved (PhyloP=-1.24 with no splicing effect.
BS2
High AC in GnomAd4 at 62 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
UBQLN4 | NM_020131.5 | c.1251C>T | p.Pro417= | synonymous_variant | 7/11 | ENST00000368309.4 | NP_064516.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UBQLN4 | ENST00000368309.4 | c.1251C>T | p.Pro417= | synonymous_variant | 7/11 | 1 | NM_020131.5 | ENSP00000357292 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000407 AC: 62AN: 152200Hom.: 0 Cov.: 32
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GnomAD3 exomes AF: 0.000454 AC: 114AN: 251350Hom.: 0 AF XY: 0.000486 AC XY: 66AN XY: 135840
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GnomAD4 exome AF: 0.000547 AC: 800AN: 1461698Hom.: 0 Cov.: 31 AF XY: 0.000531 AC XY: 386AN XY: 727164
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GnomAD4 genome AF: 0.000407 AC: 62AN: 152318Hom.: 0 Cov.: 32 AF XY: 0.000430 AC XY: 32AN XY: 74476
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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 | Labcorp Genetics (formerly Invitae), Labcorp | May 14, 2018 | - - |
Computational scores
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Benign
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Benign
DANN
Benign
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at