chr21-42903203-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_021075.4(NDUFV3):āc.191G>Cā(p.Arg64Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,461,894 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_021075.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NDUFV3 | NM_021075.4 | c.191G>C | p.Arg64Thr | missense_variant | 3/4 | ENST00000354250.7 | NP_066553.3 | |
NDUFV3 | XM_011529586.3 | c.191G>C | p.Arg64Thr | missense_variant | 3/5 | XP_011527888.1 | ||
NDUFV3 | NM_001001503.2 | c.170-5661G>C | intron_variant | NP_001001503.1 | ||||
NDUFV3 | XM_017028359.2 | c.170-3637G>C | intron_variant | XP_016883848.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NDUFV3 | ENST00000354250.7 | c.191G>C | p.Arg64Thr | missense_variant | 3/4 | 1 | NM_021075.4 | ENSP00000346196 | ||
NDUFV3 | ENST00000340344.4 | c.170-5661G>C | intron_variant | 1 | ENSP00000342895 | P1 | ||||
NDUFV3 | ENST00000460259.1 | n.714G>C | non_coding_transcript_exon_variant | 5/6 | 2 | |||||
NDUFV3 | ENST00000460740.1 | n.83G>C | non_coding_transcript_exon_variant | 2/2 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251374Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135902
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461894Hom.: 0 Cov.: 30 AF XY: 0.00000275 AC XY: 2AN XY: 727248
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 12, 2023 | The c.191G>C (p.R64T) alteration is located in exon 3 (coding exon 3) of the NDUFV3 gene. This alteration results from a G to C substitution at nucleotide position 191, causing the arginine (R) at amino acid position 64 to be replaced by a threonine (T). 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