rs745454190
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP6_ModerateBS1
The NM_005045.4(RELN):c.6523+43_6523+44insACATTGT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000836 in 1,472,168 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Genomes: 𝑓 0.000033 ( 0 hom., cov: 32)
Exomes 𝑓: 0.000089 ( 0 hom. )
Consequence
RELN
NM_005045.4 intron
NM_005045.4 intron
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 0.258
Genes affected
RELN (HGNC:9957): (reelin) This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -6 ACMG points.
BP6
Variant 7-103545080-A-AACAATGT is Benign according to our data. Variant chr7-103545080-A-AACAATGT is described in ClinVar as [Likely_benign]. Clinvar id is 259610.Status of the report is criteria_provided_single_submitter, 1 stars.
BS1
Variant frequency is greater than expected in population nfe. gnomad4_exome allele frequency = 0.0000894 (118/1319910) while in subpopulation NFE AF= 0.000115 (113/984520). AF 95% confidence interval is 0.000097. There are 0 homozygotes in gnomad4_exome. There are 63 alleles in male gnomad4_exome subpopulation. Median coverage is 20. This position pass quality control queck.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000328 AC: 5AN: 152258Hom.: 0 Cov.: 32
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GnomAD3 exomes AF: 0.0000282 AC: 7AN: 247814Hom.: 0 AF XY: 0.0000373 AC XY: 5AN XY: 134170
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GnomAD4 exome AF: 0.0000894 AC: 118AN: 1319910Hom.: 0 Cov.: 20 AF XY: 0.0000948 AC XY: 63AN XY: 664624
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GnomAD4 genome AF: 0.0000328 AC: 5AN: 152258Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74388
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ClinVar
Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not specified Benign:1
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PreventionGenetics, part of Exact Sciences
Significance: Likely benign
Review Status: criteria provided, single submitter
Collection Method: clinical testing
- -
Computational scores
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at