7-74779322-A-G
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_000265.7(NCF1):āc.295A>Gā(p.Ser99Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.114 in 1,400,968 control chromosomes in the GnomAD database, including 13,412 homozygotes. In-silico tool predicts a benign outcome for this variant. 5/6 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_000265.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.171 AC: 23536AN: 137296Hom.: 1788 Cov.: 22
GnomAD4 exome AF: 0.114 AC: 159768AN: 1400968Hom.: 13412 Cov.: 32 AF XY: 0.114 AC XY: 79430AN XY: 697546
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.172 AC: 23572AN: 137406Hom.: 1794 Cov.: 22 AF XY: 0.173 AC XY: 11572AN XY: 66968
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Feb 29, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at