rs906807
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_021074.5(NDUFV2):c.86T>A(p.Val29Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. 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. V29A) has been classified as Benign.
Frequency
Consequence
NM_021074.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NDUFV2 | NM_021074.5 | c.86T>A | p.Val29Asp | missense_variant | 2/8 | ENST00000318388.11 | |
NDUFV2 | XM_017025782.2 | c.-2T>A | 5_prime_UTR_variant | 2/8 | |||
NDUFV2 | XR_243808.4 | n.131T>A | non_coding_transcript_exon_variant | 2/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NDUFV2 | ENST00000318388.11 | c.86T>A | p.Val29Asp | missense_variant | 2/8 | 1 | NM_021074.5 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 1446728Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 720770
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at