2-219076956-T-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_024782.3(NHEJ1):c.825+290A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0323 in 152,266 control chromosomes in the GnomAD database, including 130 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.032 ( 130 hom., cov: 32)
Consequence
NHEJ1
NM_024782.3 intron
NM_024782.3 intron
Scores
2
Clinical Significance
Conservation
PhyloP100: -0.843
Genes affected
NHEJ1 (HGNC:25737): (non-homologous end joining factor 1) Double-strand breaks in DNA result from genotoxic stresses and are among the most damaging of DNA lesions. This gene encodes a DNA repair factor essential for the nonhomologous end-joining pathway, which preferentially mediates repair of double-stranded breaks. Mutations in this gene cause different kinds of severe combined immunodeficiency disorders. [provided by RefSeq, Jul 2008]
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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=-0.94).
BP6
?
Variant 2-219076956-T-C is Benign according to our data. Variant chr2-219076956-T-C is described in ClinVar as [Benign]. Clinvar id is 1237087.Status of the report is criteria_provided_single_submitter, 1 stars.
BS1
?
Variant frequency is greater than expected in population nfe. gnomad4 allele frequency = 0.0323 (4921/152266) while in subpopulation NFE AF= 0.046 (3128/68028). AF 95% confidence interval is 0.0446. There are 130 homozygotes in gnomad4. There are 2524 alleles in male gnomad4 subpopulation. Median coverage is 32. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd at 130 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NHEJ1 | NM_024782.3 | c.825+290A>G | intron_variant | ENST00000356853.10 | |||
NHEJ1 | NM_001377498.1 | c.825+290A>G | intron_variant | ||||
NHEJ1 | NM_001377499.1 | c.840+290A>G | intron_variant | ||||
NHEJ1 | NR_165304.1 | n.1003+290A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NHEJ1 | ENST00000356853.10 | c.825+290A>G | intron_variant | 1 | NM_024782.3 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.0323 AC: 4921AN: 152148Hom.: 130 Cov.: 32
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.0323 AC: 4921AN: 152266Hom.: 130 Cov.: 32 AF XY: 0.0339 AC XY: 2524AN XY: 74464
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?
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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 17, 2019 | - - |
Computational scores
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Name
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BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at