rs11217241
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_031433.4(MFRP):c.1387+3G>T variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,604 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 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MFRP | NM_031433.4 | c.1387+3G>T | splice_region_variant, intron_variant | ENST00000619721.6 | NP_113621.1 | |||
C1QTNF5 | NM_015645.5 | c.-1250+3G>T | splice_region_variant, intron_variant | NP_056460.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MFRP | ENST00000619721.6 | c.1387+3G>T | splice_region_variant, intron_variant | 1 | NM_031433.4 | ENSP00000481824.1 | ||||
MFRP | ENST00000360167.4 | c.1161+3G>T | splice_region_variant, intron_variant | 2 | ENSP00000353291.4 | |||||
MFRP | ENST00000449574.7 | c.256+3G>T | splice_region_variant, intron_variant | 5 | ENSP00000391664.3 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000123 AC: 3AN: 243588Hom.: 0 AF XY: 0.0000151 AC XY: 2AN XY: 132780
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460604Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 726576
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at