chr8-23682670-C-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_006167.4(NKX3-1):āc.220G>Cā(p.Asp74His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000763 in 1,572,596 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_006167.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NKX3-1 | NM_006167.4 | c.220G>C | p.Asp74His | missense_variant | 1/2 | ENST00000380871.5 | |
LOC107986930 | XR_001745842.2 | n.1312+13920C>G | intron_variant, non_coding_transcript_variant | ||||
NKX3-1 | NM_001256339.1 | c.34-39G>C | intron_variant | ||||
NKX3-1 | NR_046072.2 | n.35+234G>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NKX3-1 | ENST00000380871.5 | c.220G>C | p.Asp74His | missense_variant | 1/2 | 1 | NM_006167.4 | P2 | |
NKX3-1 | ENST00000523261.1 | c.34-39G>C | intron_variant | 1 | A2 |
Frequencies
GnomAD3 genomes AF: 0.0000855 AC: 13AN: 152124Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000774 AC: 15AN: 193808Hom.: 0 AF XY: 0.000101 AC XY: 11AN XY: 108782
GnomAD4 exome AF: 0.0000753 AC: 107AN: 1420366Hom.: 3 Cov.: 30 AF XY: 0.000101 AC XY: 71AN XY: 706290
GnomAD4 genome AF: 0.0000854 AC: 13AN: 152230Hom.: 0 Cov.: 33 AF XY: 0.000121 AC XY: 9AN XY: 74424
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 18, 2023 | The c.220G>C (p.D74H) alteration is located in exon 1 (coding exon 1) of the NKX3-1 gene. This alteration results from a G to C substitution at nucleotide position 220, causing the aspartic acid (D) at amino acid position 74 to be replaced by a histidine (H). 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