rs1053993
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_178477.5(BANF2):c.233C>G(p.Thr78Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.298 in 1,612,946 control chromosomes in the GnomAD database, including 74,199 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/18 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_178477.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BANF2 | NM_178477.5 | c.233C>G | p.Thr78Ser | missense_variant | 4/4 | ENST00000246090.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BANF2 | ENST00000246090.6 | c.233C>G | p.Thr78Ser | missense_variant | 4/4 | 1 | NM_178477.5 | P1 | |
BANF2 | ENST00000377805.7 | c.233C>G | p.Thr78Ser | missense_variant | 3/3 | 1 | P1 | ||
BANF2 | ENST00000545418.2 | c.254C>G | p.Thr85Ser | missense_variant | 3/3 | 3 | |||
BANF2 | ENST00000467330.1 | n.437C>G | non_coding_transcript_exon_variant | 2/2 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.342 AC: 51870AN: 151808Hom.: 9596 Cov.: 32
GnomAD3 exomes AF: 0.312 AC: 78419AN: 251242Hom.: 13054 AF XY: 0.309 AC XY: 41912AN XY: 135776
GnomAD4 exome AF: 0.294 AC: 428919AN: 1461020Hom.: 64599 Cov.: 34 AF XY: 0.294 AC XY: 213898AN XY: 726814
GnomAD4 genome ? AF: 0.342 AC: 51903AN: 151926Hom.: 9600 Cov.: 32 AF XY: 0.339 AC XY: 25210AN XY: 74288
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at