11-119345432-C-A
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BS1BS2
The NM_031433.4(MFRP):c.629G>T(p.Gly210Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00592 in 1,613,792 control chromosomes in the GnomAD database, including 31 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_031433.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MFRP | NM_031433.4 | c.629G>T | p.Gly210Val | missense_variant | Exon 5 of 15 | ENST00000619721.6 | NP_113621.1 | |
C1QTNF5 | NM_015645.5 | c.-2008G>T | 5_prime_UTR_variant | Exon 5 of 15 | NP_056460.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00369 AC: 561AN: 152134Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.00387 AC: 961AN: 248544Hom.: 3 AF XY: 0.00379 AC XY: 511AN XY: 134738
GnomAD4 exome AF: 0.00615 AC: 8994AN: 1461540Hom.: 30 Cov.: 31 AF XY: 0.00601 AC XY: 4372AN XY: 727082
GnomAD4 genome AF: 0.00368 AC: 560AN: 152252Hom.: 1 Cov.: 32 AF XY: 0.00328 AC XY: 244AN XY: 74440
ClinVar
Submissions by phenotype
not specified Benign:2
- -
- -
Retinal degeneration Uncertain:1
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Isolated microphthalmia 5 Benign:1
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not provided Benign:1
C1QTNF5: BS2; MFRP: BP4, BS2 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at