16-23596254-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005003.3(NDUFAB1):c.37C>G(p.Leu13Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000257 in 1,596,952 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005003.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NDUFAB1 | NM_005003.3 | c.37C>G | p.Leu13Val | missense_variant | 1/5 | ENST00000007516.8 | |
NDUFAB1 | XM_011545856.3 | c.37C>G | p.Leu13Val | missense_variant | 1/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NDUFAB1 | ENST00000007516.8 | c.37C>G | p.Leu13Val | missense_variant | 1/5 | 1 | NM_005003.3 | P1 | |
NDUFAB1 | ENST00000570319.5 | c.37C>G | p.Leu13Val | missense_variant | 1/4 | 1 | P1 | ||
NDUFAB1 | ENST00000562133.5 | c.25C>G | p.Leu9Val | missense_variant | 1/4 | 2 | |||
NDUFAB1 | ENST00000484769.1 | c.37C>G | p.Leu13Val | missense_variant, NMD_transcript_variant | 1/6 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.000164 AC: 25AN: 152248Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000143 AC: 3AN: 209510Hom.: 0 AF XY: 0.0000172 AC XY: 2AN XY: 115944
GnomAD4 exome AF: 0.0000111 AC: 16AN: 1444586Hom.: 0 Cov.: 32 AF XY: 0.0000139 AC XY: 10AN XY: 717946
GnomAD4 genome ? AF: 0.000164 AC: 25AN: 152366Hom.: 0 Cov.: 33 AF XY: 0.000121 AC XY: 9AN XY: 74506
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 16, 2024 | The c.37C>G (p.L13V) alteration is located in exon 1 (coding exon 1) of the NDUFAB1 gene. This alteration results from a C to G substitution at nucleotide position 37, causing the leucine (L) at amino acid position 13 to be replaced by a valine (V). 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