rs150902999
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BS1BS2
The ENST00000619721.6(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). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G210D) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000619721.6 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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MFRP | NM_031433.4 | c.629G>T | p.Gly210Val | missense_variant | 5/15 | ENST00000619721.6 | NP_113621.1 | |
C1QTNF5 | NM_015645.5 | c.-2008G>T | 5_prime_UTR_variant | 5/15 | NP_056460.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MFRP | ENST00000619721.6 | c.629G>T | p.Gly210Val | missense_variant | 5/15 | 1 | NM_031433.4 | ENSP00000481824 | P1 | |
MFRP | ENST00000360167.4 | c.629G>T | p.Gly210Val | missense_variant | 5/10 | 2 | ENSP00000353291 | |||
MFRP | ENST00000529147.2 | n.592G>T | non_coding_transcript_exon_variant | 4/6 | 5 | |||||
MFRP | ENST00000634542.1 | c.*220G>T | 3_prime_UTR_variant, NMD_transcript_variant | 4/5 | 3 | ENSP00000488979 |
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
Benign, criteria provided, single submitter | clinical testing | Eurofins Ntd Llc (ga) | Aug 15, 2013 | - - |
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | - | - - |
Retinal degeneration Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Jun 14, 2016 | - - |
Isolated microphthalmia 5 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jan 25, 2024 | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Feb 01, 2024 | C1QTNF5: BS2; MFRP: BP4, BS2 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at