rs11996715
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000623655.2(ERICD):n.912C>A variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.423 in 152,132 control chromosomes in the GnomAD database, including 14,739 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000623655.2 non_coding_transcript_exon
Scores
Clinical Significance
Conservation
Publications
- Lessel-Kreienkamp syndromeInheritance: AD Classification: DEFINITIVE, STRONG Submitted by: Illumina, Labcorp Genetics (formerly Invitae), ClinGen
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ERICD | ENST00000623655.2 | n.912C>A | non_coding_transcript_exon_variant | Exon 1 of 1 | 6 |
Frequencies
GnomAD3 genomes AF: 0.424 AC: 64384AN: 152000Hom.: 14732 Cov.: 33 show subpopulations
GnomAD4 exome AF: 0.429 AC: 6AN: 14Hom.: 1 Cov.: 0 AF XY: 0.417 AC XY: 5AN XY: 12 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.423 AC: 64408AN: 152118Hom.: 14738 Cov.: 33 AF XY: 0.424 AC XY: 31506AN XY: 74366 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at