4-102607660-T-G
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 1P and 14B. PP2BP4_StrongBP6_ModerateBS1BS2
The NM_003998.4(NFKB1):āc.2136T>Gā(p.His712Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00144 in 1,614,082 control chromosomes in the GnomAD database, including 32 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ). Synonymous variant affecting the same amino acid position (i.e. H712H) has been classified as Likely benign.
Frequency
Consequence
NM_003998.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NFKB1 | NM_003998.4 | c.2136T>G | p.His712Gln | missense_variant | 19/24 | ENST00000226574.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NFKB1 | ENST00000226574.9 | c.2136T>G | p.His712Gln | missense_variant | 19/24 | 1 | NM_003998.4 | P4 |
Frequencies
GnomAD3 genomes AF: 0.00766 AC: 1166AN: 152152Hom.: 18 Cov.: 32
GnomAD3 exomes AF: 0.00172 AC: 433AN: 251354Hom.: 4 AF XY: 0.00127 AC XY: 172AN XY: 135826
GnomAD4 exome AF: 0.000780 AC: 1140AN: 1461812Hom.: 12 Cov.: 31 AF XY: 0.000659 AC XY: 479AN XY: 727208
GnomAD4 genome AF: 0.00780 AC: 1188AN: 152270Hom.: 20 Cov.: 32 AF XY: 0.00818 AC XY: 609AN XY: 74454
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 23, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at