7-103630110-C-T
Variant summary
Our verdict is Benign. Variant got -17 ACMG points: 0P and 17B. BP4_StrongBP6_Very_StrongBP7BS1
The NM_005045.4(RELN):c.2532G>A(p.Pro844=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000979 in 1,613,390 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Synonymous variant affecting the same amino acid position (i.e. P844P) has been classified as Likely benign.
Frequency
Consequence
NM_005045.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -17 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RELN | NM_005045.4 | c.2532G>A | p.Pro844= | synonymous_variant | 20/65 | ENST00000428762.6 | |
RELN | NM_173054.3 | c.2532G>A | p.Pro844= | synonymous_variant | 20/64 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RELN | ENST00000428762.6 | c.2532G>A | p.Pro844= | synonymous_variant | 20/65 | 5 | NM_005045.4 | P5 |
Frequencies
GnomAD3 genomes ? AF: 0.000171 AC: 26AN: 151942Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000212 AC: 53AN: 250516Hom.: 1 AF XY: 0.000177 AC XY: 24AN XY: 135412
GnomAD4 exome AF: 0.0000876 AC: 128AN: 1461330Hom.: 3 Cov.: 31 AF XY: 0.0000853 AC XY: 62AN XY: 726992
GnomAD4 genome ? AF: 0.000197 AC: 30AN: 152060Hom.: 1 Cov.: 32 AF XY: 0.000202 AC XY: 15AN XY: 74356
ClinVar
Submissions by phenotype
not specified Benign:2
Likely benign, criteria provided, single submitter | clinical testing | Athena Diagnostics | Mar 15, 2017 | - - |
Likely benign, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Oct 13, 2017 | - - |
Norman-Roberts syndrome;C4225327:Familial temporal lobe epilepsy 7 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 21, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at