rs17153882
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_145235.5(FANK1):āc.138G>Cā(p.Arg46Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0302 in 1,614,014 control chromosomes in the GnomAD database, including 917 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 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_145235.5 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 |
---|---|---|---|---|---|---|---|
FANK1 | NM_145235.5 | c.138G>C | p.Arg46Ser | missense_variant | 2/11 | ENST00000368693.6 | |
FANK1 | NM_001350939.2 | c.138G>C | p.Arg46Ser | missense_variant | 2/12 | ||
FANK1 | NM_001363549.2 | c.120G>C | p.Arg40Ser | missense_variant | 2/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FANK1 | ENST00000368693.6 | c.138G>C | p.Arg46Ser | missense_variant | 2/11 | 1 | NM_145235.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0236 AC: 3582AN: 152036Hom.: 79 Cov.: 32
GnomAD3 exomes AF: 0.0242 AC: 6094AN: 251410Hom.: 112 AF XY: 0.0244 AC XY: 3313AN XY: 135874
GnomAD4 exome AF: 0.0308 AC: 45092AN: 1461860Hom.: 838 Cov.: 31 AF XY: 0.0303 AC XY: 22058AN XY: 727226
GnomAD4 genome ? AF: 0.0235 AC: 3575AN: 152154Hom.: 79 Cov.: 32 AF XY: 0.0226 AC XY: 1684AN XY: 74392
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at