11-119344061-A-C
Variant summary
Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_031433.4(MFRP):c.976-97T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000132 in 151,280 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.
Frequency
Consequence
NM_031433.4 intron
Scores
Clinical Significance
Conservation
Publications
- late-onset retinal degenerationInheritance: AD Classification: DEFINITIVE, STRONG, SUPPORTIVE Submitted by: Orphanet, Labcorp Genetics (formerly Invitae), G2P
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ACMG classification
Our verdict: Likely_benign. The variant received -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MFRP | NM_031433.4 | c.976-97T>G | intron_variant | Intron 8 of 14 | ENST00000619721.6 | NP_113621.1 | ||
C1QTNF5 | NM_015645.5 | c.-1661-97T>G | intron_variant | Intron 8 of 14 | NP_056460.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151280Hom.: 0 Cov.: 29 show subpopulations
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151280Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 73812 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at