rs7652177
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_022763.4(FNDC3B):āc.536C>Gā(p.Thr179Ser) variant causes a missense change. The variant allele was found at a frequency of 0.524 in 1,609,202 control chromosomes in the GnomAD database, including 226,650 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_022763.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FNDC3B | NM_022763.4 | c.536C>G | p.Thr179Ser | missense_variant | 6/26 | ENST00000415807.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FNDC3B | ENST00000415807.7 | c.536C>G | p.Thr179Ser | missense_variant | 6/26 | 1 | NM_022763.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.606 AC: 91957AN: 151812Hom.: 29701 Cov.: 30
GnomAD3 exomes AF: 0.542 AC: 135829AN: 250802Hom.: 37953 AF XY: 0.534 AC XY: 72427AN XY: 135600
GnomAD4 exome AF: 0.516 AC: 751299AN: 1457272Hom.: 196895 Cov.: 35 AF XY: 0.515 AC XY: 373649AN XY: 725152
GnomAD4 genome ? AF: 0.606 AC: 92070AN: 151930Hom.: 29755 Cov.: 30 AF XY: 0.606 AC XY: 44998AN XY: 74222
ClinVar
Submissions by phenotype
FNDC3B-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Oct 29, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at