7-103917166-G-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_ModerateBP6_Very_StrongBS1
The NM_005045.4(RELN):c.246C>G(p.Thr82Thr) variant causes a synonymous change. The variant allele was found at a frequency of 0.000263 in 1,613,282 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
Consequence
NM_005045.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00151 AC: 229AN: 151834Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000363 AC: 91AN: 250900Hom.: 0 AF XY: 0.000310 AC XY: 42AN XY: 135584
GnomAD4 exome AF: 0.000133 AC: 195AN: 1461330Hom.: 0 Cov.: 31 AF XY: 0.000127 AC XY: 92AN XY: 726982
GnomAD4 genome AF: 0.00151 AC: 230AN: 151952Hom.: 0 Cov.: 32 AF XY: 0.00136 AC XY: 101AN XY: 74256
ClinVar
Submissions by phenotype
not specified Benign:2
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not provided Benign:2
RELN: BP4, BS1 -
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Norman-Roberts syndrome;C4225327:Familial temporal lobe epilepsy 7 Benign:1
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Norman-Roberts syndrome Benign:1
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at