NM_198525.3:c.1885G>A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_198525.3(KIF7):c.1885G>A(p.Glu629Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00434 in 1,613,772 control chromosomes in the GnomAD database, including 52 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_198525.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
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KIF7 | ENST00000394412.8 | c.1885G>A | p.Glu629Lys | missense_variant | Exon 8 of 19 | 5 | NM_198525.3 | ENSP00000377934.3 | ||
KIF7 | ENST00000696512.1 | c.2008G>A | p.Glu670Lys | missense_variant | Exon 8 of 19 | ENSP00000512678.1 |
Frequencies
GnomAD3 genomes AF: 0.00503 AC: 766AN: 152190Hom.: 7 Cov.: 32
GnomAD3 exomes AF: 0.00531 AC: 1334AN: 251068Hom.: 13 AF XY: 0.00510 AC XY: 692AN XY: 135736
GnomAD4 exome AF: 0.00427 AC: 6244AN: 1461464Hom.: 45 Cov.: 33 AF XY: 0.00436 AC XY: 3170AN XY: 727080
GnomAD4 genome AF: 0.00503 AC: 766AN: 152308Hom.: 7 Cov.: 32 AF XY: 0.00524 AC XY: 390AN XY: 74468
ClinVar
Submissions by phenotype
not specified Benign:5
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This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
not provided Benign:5
KIF7: BP4, BS2 -
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Acrocallosal syndrome Benign:2
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This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. -
Acrocallosal syndrome;C1846722:Multiple epiphyseal dysplasia, Al-Gazali type;C3279899:Hydrolethalus syndrome 2 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at