1-20651801-T-TTTTATTTATTTATTTATTTA

Variant summary

Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2

The NM_005216.5(DDOST):c.*577_*578insTAAATAAATAAATAAATAAA variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Uncertain significance (★).

• Frequency:
  • Genomes: 𝑓 0.0078 (9 hom., cov: 0)
  • Exomes 𝑓: 0.0 (0 hom.)
  • Failed GnomAD Quality Control
• Consequence: DDOST NM_005216.5 3_prime_UTR
• Clinical Significance: Uncertain significance criteria provided, single submitter U:1
• Conservation: PhyloP100: 0.118

Genes affected

DDOST (HGNC:2728): (dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit) This gene encodes a component of the oligosaccharyltransferase complex which catalyzes the transfer of high-mannose oligosaccharides to asparagine residues on nascent polypeptides in the lumen of the rough endoplasmic reticulum. The protein complex co-purifies with ribosomes. The product of this gene is also implicated in the processing of advanced glycation endproducts (AGEs), which form from non-enzymatic reactions between sugars and proteins or lipids and are associated with aging and hyperglycemia. [provided by RefSeq, Jul 2008]

PINK1-AS (HGNC:38872): (PINK1 antisense RNA)

ACMG classification

Verdict is Likely_benign. Variant got -4 ACMG points.

• BS2: High Homozygotes in GnomAd at 9 AR gene

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
DDOST	NM_005216.5	c.*577_*578insTAAATAAATAAATAAATAAA		3_prime_UTR_variant	11/11	ENST00000602624.7
PINK1-AS	NR_046507.1	n.392_393insTAAATAAATAAATAAATAAA		non_coding_transcript_exon_variant	1/3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
DDOST	ENST00000602624.7	c.*577_*578insTAAATAAATAAATAAATAAA		3_prime_UTR_variant	11/11	1	NM_005216.5	P1
DDOST	ENST00000415136.6	c.*577_*578insTAAATAAATAAATAAATAAA		3_prime_UTR_variant	11/11	1
PINK1-AS	ENST00000451424.1	n.392_393insTAAATAAATAAATAAATAAA		non_coding_transcript_exon_variant	1/3	2

Frequencies

GnomAD3 genomes AF: 0.00786 AC: 1156 AN: 147088 Hom.: 9 Cov.: 0

Gnomad AFR AF: 0.0146

Gnomad AMI AF: 0.0267

Gnomad AMR AF: 0.00563

Gnomad ASJ AF: 0.00840

Gnomad EAS AF: 0.0161

Gnomad SAS AF: 0.0126

Gnomad FIN AF: 0.00235

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.00399

Gnomad OTH AF: 0.00692

GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0 AN: 8 Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0 AN XY: 8

Gnomad4 NFE exome AF: 0.00

Gnomad4 OTH exome AF: 0.00

GnomAD4 genome AF: 0.00785 AC: 1155 AN: 147178 Hom.: 9 Cov.: 0 AF XY: 0.00794 AC XY: 567 AN XY: 71440

Gnomad4 AFR AF: 0.0145

Gnomad4 AMR AF: 0.00562

Gnomad4 ASJ AF: 0.00840

Gnomad4 EAS AF: 0.0162

Gnomad4 SAS AF: 0.0124

Gnomad4 FIN AF: 0.00235

Gnomad4 NFE AF: 0.00399

Gnomad4 OTH AF: 0.00686

ClinVar

Significance: Uncertain significance

Submissions summary: Uncertain:1

Revision: criteria provided, single submitter

Submissions by phenotype

Congenital disorder of glycosylation Uncertain:1

Uncertain significance, criteria provided, single submitter

clinical testing

Illumina Laboratory Services, Illumina

Jun 14, 2016

- -

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs78039244; hg19: chr1-20978294;