chr13-39724501-T-TAA

Variant names:

• chr13-39724501-T-TAA
• rs66629036
• NM_020751.3:c.1693-5_1693-4dupAA

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.

The NM_020751.3(COG6):​c.1693-5_1693-4dupAA variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: not found (cov: 0)
  • Exomes 𝑓: 0.0000018 (0 hom.)
• Consequence: COG6 NM_020751.3 splice_region, intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.247
• Publications: 0 publications found

Genes affected

COG6 (HGNC:18621): (component of oligomeric golgi complex 6) This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]

COG6 Gene-Disease associations (from GenCC):

• COG6-congenital disorder of glycosylation

  Inheritance: AR Classification: DEFINITIVE, STRONG, SUPPORTIVE Submitted by: Labcorp Genetics (formerly Invitae), ClinGen, Orphanet
• hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

  Inheritance: AR Classification: SUPPORTIVE Submitted by: Orphanet

ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_020751.3. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	COG6	NM_020751.3	MANE Select	c.1693-5_1693-4dupAA		splice_region intron	N/A	NP_065802.1	Q9Y2V7-1
	COG6	NM_001145079.2		c.1693-5_1693-4dupAA		splice_region intron	N/A	NP_001138551.1	A0A140VJG7
	COG6	NR_026745.1		n.1858-5_1858-4dupAA		splice_region intron	N/A

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	COG6	ENST00000455146.8	TSL:1 MANE Select	c.1693-7_1693-6insAA		splice_region intron	N/A	ENSP00000397441.2	Q9Y2V7-1
	COG6	ENST00000416691.6	TSL:1	c.1693-7_1693-6insAA		splice_region intron	N/A	ENSP00000403733.1	Q9Y2V7-2
	COG6	ENST00000356576.8	TSL:1	n.*1530-7_*1530-6insAA		splice_region intron	N/A	ENSP00000348983.4	Q9Y2V7-4

Frequencies

GnomAD3 genomes Cov.: 0

GnomAD4 exome AF: 0.00000178 AC: 2 AN: 1122060 Hom.: 0 Cov.: 16 AF XY: 0.00000357 AC XY: 2 AN XY: 559936

African (AFR) AF: 0.00 AC: 0 AN: 25310

American (AMR) AF: 0.00 AC: 0 AN: 28966

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 19586

East Asian (EAS) AF: 0.00 AC: 0 AN: 30884

South Asian (SAS) AF: 0.00 AC: 0 AN: 61168

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 43452

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 3296

European-Non Finnish (NFE) AF: 0.00000232 AC: 2 AN: 863028

Other (OTH) AF: 0.00 AC: 0 AN: 46370

GnomAD4 genome Cov.: 0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		-0.25

Splicing

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

Other links and lift over

dbSNP: rs66629036; hg19: chr13-40298638;