chr9-6849689-G-C
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_015061.6(KDM4C):āc.618G>Cā(p.Glu206Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000706 in 1,561,342 control chromosomes in the GnomAD database, including 7 homozygotes. In-silico tool predicts 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_015061.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KDM4C | NM_015061.6 | c.618G>C | p.Glu206Asp | missense_variant | 5/22 | ENST00000381309.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KDM4C | ENST00000381309.8 | c.618G>C | p.Glu206Asp | missense_variant | 5/22 | 1 | NM_015061.6 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00374 AC: 569AN: 152116Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.000963 AC: 230AN: 238808Hom.: 1 AF XY: 0.000659 AC XY: 85AN XY: 128968
GnomAD4 exome AF: 0.000373 AC: 526AN: 1409108Hom.: 5 Cov.: 31 AF XY: 0.000301 AC XY: 209AN XY: 693666
GnomAD4 genome AF: 0.00379 AC: 577AN: 152234Hom.: 2 Cov.: 32 AF XY: 0.00374 AC XY: 278AN XY: 74424
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Apr 30, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at