chr19-8311547-G-A
Variant summary
Our verdict is Benign. The variant received -13 ACMG points: 0P and 13B. BP4_StrongBP7BA1
The NM_005001.5(NDUFA7):c.300C>T(p.Pro100Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.179 in 1,611,872 control chromosomes in the GnomAD database, including 27,727 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_005001.5 synonymous
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -13 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NDUFA7 | ENST00000301457.3 | c.300C>T | p.Pro100Pro | synonymous_variant | Exon 4 of 4 | 1 | NM_005001.5 | ENSP00000301457.1 | ||
ENSG00000167774 | ENST00000598884.1 | n.300C>T | non_coding_transcript_exon_variant | Exon 4 of 5 | 4 | ENSP00000470609.1 |
Frequencies
GnomAD3 genomes AF: 0.156 AC: 23679AN: 152066Hom.: 2233 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.181 AC: 44832AN: 247198 AF XY: 0.173 show subpopulations
GnomAD4 exome AF: 0.181 AC: 264190AN: 1459688Hom.: 25495 Cov.: 31 AF XY: 0.177 AC XY: 128717AN XY: 726098 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.156 AC: 23676AN: 152184Hom.: 2232 Cov.: 32 AF XY: 0.155 AC XY: 11566AN XY: 74396 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at