16-86197744-C-CGTGTGT

Position:

• chr16-86197744-C-CGTGTGT

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BS1 BS2

The ENST00000601250.1(LINC01082):​n.232+1357_232+1362dupGTGTGT variant causes a 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: 𝑓 0.015 (36 hom., cov: 0)
• Consequence: LINC01082 ENST00000601250.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.11

Genes affected

ENSG00000268505 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BS1: Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.0149 (2198/147954) while in subpopulation AFR AF= 0.0329 (1306/39738). AF 95% confidence interval is 0.0314. There are 36 homozygotes in gnomad4. There are 1225 alleles in male gnomad4 subpopulation. Median coverage is 0. This position pass quality control queck.
• BS2: High Homozygotes in GnomAd4 at 36 gene

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
LINC01082	NR_103859.1	n.232+1357_232+1362dupGTGTGT		intron_variant
LOC124903743	XR_007065164.1	n.628-571_628-566dupACACAC		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
ENSG00000268505	ENST00000599841.1	n.25-571_25-566dupACACAC		intron_variant		4
LINC01082	ENST00000601250.1	n.232+1357_232+1362dupGTGTGT		intron_variant		2
LINC01082	ENST00000669926.2	n.459+1357_459+1362dupGTGTGT		intron_variant

Frequencies

GnomAD3 genomes AF: 0.0149 AC: 2197 AN: 147848 Hom.: 36 Cov.: 0

Gnomad AFR AF: 0.0329

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00448

Gnomad ASJ AF: 0.00262

Gnomad EAS AF: 0.0138

Gnomad SAS AF: 0.00350

Gnomad FIN AF: 0.0595

Gnomad MID AF: 0.00955

Gnomad NFE AF: 0.00176

Gnomad OTH AF: 0.00995

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

GnomAD4 genome AF: 0.0149 AC: 2198 AN: 147954 Hom.: 36 Cov.: 0 AF XY: 0.0170 AC XY: 1225 AN XY: 71978

Gnomad4 AFR AF: 0.0329

Gnomad4 AMR AF: 0.00448

Gnomad4 ASJ AF: 0.00262

Gnomad4 EAS AF: 0.0137

Gnomad4 SAS AF: 0.00329

Gnomad4 FIN AF: 0.0595

Gnomad4 NFE AF: 0.00176

Gnomad4 OTH AF: 0.00984

ClinVar

Not reported in ClinVar

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: rs58016760; hg19: chr16-86231350;