chr21-42903542-T-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_021075.4(NDUFV3):āc.530T>Gā(p.Val177Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,794 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 Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NDUFV3 | NM_021075.4 | c.530T>G | p.Val177Gly | missense_variant | 3/4 | ENST00000354250.7 | |
NDUFV3 | XM_011529586.3 | c.530T>G | p.Val177Gly | missense_variant | 3/5 | ||
NDUFV3 | NM_001001503.2 | c.170-5322T>G | intron_variant | ||||
NDUFV3 | XM_017028359.2 | c.170-3298T>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NDUFV3 | ENST00000354250.7 | c.530T>G | p.Val177Gly | missense_variant | 3/4 | 1 | NM_021075.4 | ||
NDUFV3 | ENST00000340344.4 | c.170-5322T>G | intron_variant | 1 | P1 | ||||
NDUFV3 | ENST00000460259.1 | n.1053T>G | non_coding_transcript_exon_variant | 5/6 | 2 | ||||
NDUFV3 | ENST00000460740.1 | n.422T>G | non_coding_transcript_exon_variant | 2/2 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461794Hom.: 0 Cov.: 76 AF XY: 0.00 AC XY: 0AN XY: 727200
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 16, 2023 | The c.530T>G (p.V177G) alteration is located in exon 3 (coding exon 3) of the NDUFV3 gene. This alteration results from a T to G substitution at nucleotide position 530, causing the valine (V) at amino acid position 177 to be replaced by a glycine (G). 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
Publications
No publications associated with this variant yet.