20-36182312-G-A
Variant summary
Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_012156.2(EPB41L1):c.531G>A(p.Pro177Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000384 in 1,614,068 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. P177P) has been classified as Likely benign.
Frequency
Consequence
NM_012156.2 synonymous
Scores
Clinical Significance
Conservation
Publications
- autosomal dominant non-syndromic intellectual disabilityInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
- complex neurodevelopmental disorderInheritance: AD Classification: LIMITED Submitted by: ClinGen
- intellectual disability, autosomal dominant 11Inheritance: AD Classification: LIMITED Submitted by: G2P
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ACMG classification
Our verdict: Benign. The variant received -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000118 AC: 18AN: 152166Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.0000437 AC: 11AN: 251448 AF XY: 0.0000147 show subpopulations
GnomAD4 exome AF: 0.0000301 AC: 44AN: 1461784Hom.: 0 Cov.: 31 AF XY: 0.0000261 AC XY: 19AN XY: 727194 show subpopulations
GnomAD4 genome AF: 0.000118 AC: 18AN: 152284Hom.: 0 Cov.: 32 AF XY: 0.000107 AC XY: 8AN XY: 74464 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at