chr1-77888900-G-T
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Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_144573.4(NEXN):c.-53+141G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.277 in 152,428 control chromosomes in the GnomAD database, including 6,204 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Genomes: 𝑓 0.28 ( 6195 hom., cov: 32)
Exomes 𝑓: 0.20 ( 9 hom. )
Consequence
NEXN
NM_144573.4 intron
NM_144573.4 intron
Scores
2
Clinical Significance
Conservation
PhyloP100: -0.467
Genes affected
NEXN (HGNC:29557): (nexilin F-actin binding protein) This gene encodes a filamentous actin-binding protein that may function in cell adhesion and migration. Mutations in this gene have been associated with dilated cardiomyopathy, also known as CMD1CC. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]
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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=-0.8).
BP6
Variant 1-77888900-G-T is Benign according to our data. Variant chr1-77888900-G-T is described in ClinVar as [Benign]. Clinvar id is 1233836.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.381 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NEXN | NM_144573.4 | c.-53+141G>T | intron_variant | ENST00000334785.12 | |||
NEXN-AS1 | NR_103535.1 | n.441C>A | non_coding_transcript_exon_variant | 2/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NEXN | ENST00000334785.12 | c.-53+141G>T | intron_variant | 1 | NM_144573.4 | P3 | |||
NEXN-AS1 | ENST00000421331.1 | n.441C>A | non_coding_transcript_exon_variant | 2/3 | 2 |
Frequencies
GnomAD3 genomes AF: 0.277 AC: 42167AN: 151978Hom.: 6192 Cov.: 32
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GnomAD4 exome AF: 0.200 AC: 66AN: 330Hom.: 9 Cov.: 0 AF XY: 0.198 AC XY: 51AN XY: 258
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GnomAD4 genome AF: 0.277 AC: 42184AN: 152098Hom.: 6195 Cov.: 32 AF XY: 0.271 AC XY: 20166AN XY: 74380
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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 submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jun 23, 2018 | - - |
Computational scores
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Benign
CADD
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