11-67608465-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM1PM2PP3
The NM_007103.4(NDUFV1):c.142C>T(p.Arg48Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000675 in 1,614,152 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R48S) has been classified as Uncertain significance.
Frequency
Consequence
NM_007103.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NDUFV1 | NM_007103.4 | c.142C>T | p.Arg48Cys | missense_variant | 2/10 | ENST00000322776.11 | |
NDUFV1 | NM_001166102.2 | c.115C>T | p.Arg39Cys | missense_variant | 2/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NDUFV1 | ENST00000322776.11 | c.142C>T | p.Arg48Cys | missense_variant | 2/10 | 1 | NM_007103.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000394 AC: 6AN: 152146Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000557 AC: 14AN: 251494Hom.: 0 AF XY: 0.0000441 AC XY: 6AN XY: 135922
GnomAD4 exome AF: 0.0000705 AC: 103AN: 1461888Hom.: 0 Cov.: 32 AF XY: 0.0000743 AC XY: 54AN XY: 727246
GnomAD4 genome ? AF: 0.0000394 AC: 6AN: 152264Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74454
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 02, 2021 | The c.142C>T (p.R48C) alteration is located in exon 2 (coding exon 2) of the NDUFV1 gene. This alteration results from a C to T substitution at nucleotide position 142, causing the arginine (R) at amino acid position 48 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at