rs141922962
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP6_ModerateBS2
The NM_021075.4(NDUFV3):āc.168A>Cā(p.Lys56Asn) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00566 in 1,613,980 control chromosomes in the GnomAD database, including 37 homozygotes. In-silico tool predicts a benign outcome for this variant. 2/3 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Likely benign (ā ).
Frequency
Consequence
NM_021075.4 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NDUFV3 | NM_021075.4 | c.168A>C | p.Lys56Asn | missense_variant, splice_region_variant | 2/4 | ENST00000354250.7 | |
NDUFV3 | NM_001001503.2 | c.168A>C | p.Lys56Asn | missense_variant, splice_region_variant | 2/3 | ||
NDUFV3 | XM_011529586.3 | c.168A>C | p.Lys56Asn | missense_variant, splice_region_variant | 2/5 | ||
NDUFV3 | XM_017028359.2 | c.168A>C | p.Lys56Asn | missense_variant, splice_region_variant | 2/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NDUFV3 | ENST00000354250.7 | c.168A>C | p.Lys56Asn | missense_variant, splice_region_variant | 2/4 | 1 | NM_021075.4 | ||
NDUFV3 | ENST00000340344.4 | c.168A>C | p.Lys56Asn | missense_variant, splice_region_variant | 2/3 | 1 | P1 | ||
NDUFV3 | ENST00000460259.1 | n.691A>C | splice_region_variant, non_coding_transcript_exon_variant | 4/6 | 2 | ||||
NDUFV3 | ENST00000460740.1 | n.61+3665A>C | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00465 AC: 707AN: 152180Hom.: 3 Cov.: 31
GnomAD3 exomes AF: 0.00548 AC: 1377AN: 251260Hom.: 7 AF XY: 0.00543 AC XY: 738AN XY: 135828
GnomAD4 exome AF: 0.00577 AC: 8434AN: 1461682Hom.: 34 Cov.: 31 AF XY: 0.00579 AC XY: 4212AN XY: 727138
GnomAD4 genome ? AF: 0.00466 AC: 709AN: 152298Hom.: 3 Cov.: 31 AF XY: 0.00446 AC XY: 332AN XY: 74462
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Mar 29, 2016 | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Not reported. No information available. Gene not associated to pt disease. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at