11-119339360-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM1PM2
The NM_001278431.2(C1QTNF5):c.703G>A(p.Asp235Asn) variant causes a missense change. The variant allele was found at a frequency of 0.000000685 in 1,460,700 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D235Y) has been classified as Uncertain significance.
Frequency
Consequence
NM_001278431.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
C1QTNF5 | NM_001278431.2 | c.703G>A | p.Asp235Asn | missense_variant | Exon 3 of 3 | ENST00000528368.3 | NP_001265360.1 | |
MFRP | NM_031433.4 | c.*1599G>A | 3_prime_UTR_variant | Exon 15 of 15 | ENST00000619721.6 | NP_113621.1 | ||
C1QTNF5 | NM_015645.5 | c.703G>A | p.Asp235Asn | missense_variant | Exon 15 of 15 | NP_056460.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
C1QTNF5 | ENST00000528368.3 | c.703G>A | p.Asp235Asn | missense_variant | Exon 3 of 3 | 1 | NM_001278431.2 | ENSP00000431140.1 | ||
C1QTNF5 | ENST00000530681.2 | c.703G>A | p.Asp235Asn | missense_variant | Exon 2 of 2 | 1 | ENSP00000456533.2 | |||
MFRP | ENST00000619721 | c.*1599G>A | 3_prime_UTR_variant | Exon 15 of 15 | 1 | NM_031433.4 | ENSP00000481824.1 | |||
C1QTNF5 | ENST00000525657.2 | n.*10G>A | downstream_gene_variant | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460700Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726534
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.