rs1205434
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001029864.2(KIAA1755):c.1017G>T(p.Lys339Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.314 in 1,613,864 control chromosomes in the GnomAD database, including 81,431 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_001029864.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KIAA1755 | NM_001029864.2 | c.1017G>T | p.Lys339Asn | missense_variant | 3/14 | ENST00000279024.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KIAA1755 | ENST00000279024.9 | c.1017G>T | p.Lys339Asn | missense_variant | 3/14 | 5 | NM_001029864.2 | P2 | |
KIAA1755 | ENST00000496900.2 | c.1017G>T | p.Lys339Asn | missense_variant | 3/8 | 2 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.281 AC: 42695AN: 152026Hom.: 6310 Cov.: 32
GnomAD3 exomes AF: 0.303 AC: 76074AN: 251022Hom.: 12211 AF XY: 0.314 AC XY: 42688AN XY: 135738
GnomAD4 exome AF: 0.317 AC: 463815AN: 1461720Hom.: 75116 Cov.: 52 AF XY: 0.321 AC XY: 233245AN XY: 727182
GnomAD4 genome ? AF: 0.281 AC: 42707AN: 152144Hom.: 6315 Cov.: 32 AF XY: 0.281 AC XY: 20870AN XY: 74386
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at