7-103535518-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_005045.4(RELN):c.7181-34G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.758 in 1,588,700 control chromosomes in the GnomAD database, including 457,478 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_005045.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RELN | NM_005045.4 | c.7181-34G>A | intron_variant | Intron 45 of 64 | ENST00000428762.6 | NP_005036.2 | ||
RELN | NM_173054.3 | c.7181-34G>A | intron_variant | Intron 45 of 63 | NP_774959.1 | |||
LOC105375435 | XR_001745315.2 | n.41+888C>T | intron_variant | Intron 1 of 2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.749 AC: 113872AN: 152020Hom.: 42653 Cov.: 32
GnomAD3 exomes AF: 0.743 AC: 185329AN: 249508Hom.: 69246 AF XY: 0.741 AC XY: 99966AN XY: 134936
GnomAD4 exome AF: 0.759 AC: 1089972AN: 1436562Hom.: 414788 Cov.: 25 AF XY: 0.756 AC XY: 541901AN XY: 716444
GnomAD4 genome AF: 0.749 AC: 113971AN: 152138Hom.: 42690 Cov.: 32 AF XY: 0.746 AC XY: 55445AN XY: 74362
ClinVar
Submissions by phenotype
not provided Benign:2
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
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not specified Benign:1
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Norman-Roberts syndrome Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at