chr5-144393155-C-G

Variant names:

• chr5-144393155-C-G
• rs6580317
• NM_020768.4:c.833-80505C>G

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The NM_020768.4(KCTD16):​c.833-80505C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 31)
• Consequence: KCTD16 NM_020768.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.209
• Publications: 5 publications found

Genes affected

KCTD16 (HGNC:29244): (potassium channel tetramerization domain containing 16) Predicted to be involved in protein homooligomerization. Predicted to act upstream of or within regulation of G protein-coupled receptor signaling pathway. Predicted to be located in cell projection. Predicted to be part of receptor complex. Predicted to be active in postsynaptic membrane and presynaptic membrane. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Our verdict: Likely_benign. The variant received -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
KCTD16	NM_020768.4	c.833-80505C>G		intron_variant	Intron 3 of 3	ENST00000512467.6	NP_065819.1
KCTD16	NM_001370486.1	c.833-80505C>G		intron_variant	Intron 2 of 2		NP_001357415.1
KCTD16	NM_001370487.1	c.833-80505C>G		intron_variant	Intron 2 of 2		NP_001357416.1
KCTD16	XM_005268493.3	c.833-80505C>G		intron_variant	Intron 2 of 2		XP_005268550.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
KCTD16	ENST00000512467.6	c.833-80505C>G		intron_variant	Intron 3 of 3	1	NM_020768.4	ENSP00000424151.1
KCTD16	ENST00000507359.3	c.833-80505C>G		intron_variant	Intron 2 of 2	1		ENSP00000426548.1

Frequencies

GnomAD3 genomes Cov.: 31

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome Cov.: 31

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	0.48
DANN	Benign	0.32
PhyloP100		-0.21

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs6580317; hg19: chr5-143772718;