chr4-44448310-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_198353.3(KCTD8):c.214A>G(p.Ser72Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000392 in 1,605,966 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_198353.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KCTD8 | NM_198353.3 | c.214A>G | p.Ser72Gly | missense_variant | 1/2 | ENST00000360029.4 | |
KCTD8 | XM_011513690.4 | c.214A>G | p.Ser72Gly | missense_variant | 1/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KCTD8 | ENST00000360029.4 | c.214A>G | p.Ser72Gly | missense_variant | 1/2 | 1 | NM_198353.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000527 AC: 8AN: 151804Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000463 AC: 11AN: 237750Hom.: 0 AF XY: 0.0000460 AC XY: 6AN XY: 130472
GnomAD4 exome AF: 0.0000378 AC: 55AN: 1454162Hom.: 0 Cov.: 32 AF XY: 0.0000277 AC XY: 20AN XY: 723260
GnomAD4 genome ? AF: 0.0000527 AC: 8AN: 151804Hom.: 0 Cov.: 32 AF XY: 0.0000675 AC XY: 5AN XY: 74128
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 07, 2021 | The c.214A>G (p.S72G) alteration is located in exon 1 (coding exon 1) of the KCTD8 gene. This alteration results from a A to G substitution at nucleotide position 214, causing the serine (S) at amino acid position 72 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at