rs2010338

Variant names:

• chr14-46356678-T-C
• rs2010338
• ENST00000555246.5:n.299+37817T>C

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000555246.5(LINC00871):​n.299+37817T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.369 in 151,902 control chromosomes in the GnomAD database, including 10,950 homozygotes. 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: 𝑓 0.37 (10950 hom., cov: 32)
• Consequence: LINC00871 ENST00000555246.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.01
• Publications: 6 publications found

Genes affected

LINC00871 (HGNC:47038): (long intergenic non-protein coding RNA 871)

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.428 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
LINC00871	NR_102701.1	n.233-81503T>C		intron_variant	Intron 3 of 5
LINC00871	NR_102702.1	n.233-144629T>C		intron_variant	Intron 3 of 3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
LINC00871	ENST00000555246.5	n.299+37817T>C		intron_variant	Intron 4 of 5	5
LINC00871	ENST00000556886.1	n.233-81503T>C		intron_variant	Intron 3 of 5	3
LINC00871	ENST00000656720.1	n.234-144629T>C		intron_variant	Intron 3 of 3

Frequencies

GnomAD3 genomes AF: 0.369 AC: 55955 AN: 151784 Hom.: 10949 Cov.: 32

Gnomad AFR AF: 0.323

Gnomad AMI AF: 0.493

Gnomad AMR AF: 0.265

Gnomad ASJ AF: 0.381

Gnomad EAS AF: 0.0302

Gnomad SAS AF: 0.333

Gnomad FIN AF: 0.459

Gnomad MID AF: 0.323

Gnomad NFE AF: 0.432

Gnomad OTH AF: 0.366

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

GnomAD4 genome AF: 0.369 AC: 55976 AN: 151902 Hom.: 10950 Cov.: 32 AF XY: 0.364 AC XY: 27061 AN XY: 74246

African (AFR) AF: 0.322 AC: 13367 AN: 41452

American (AMR) AF: 0.265 AC: 4034 AN: 15224

Ashkenazi Jewish (ASJ) AF: 0.381 AC: 1320 AN: 3468

East Asian (EAS) AF: 0.0300 AC: 155 AN: 5160

South Asian (SAS) AF: 0.332 AC: 1600 AN: 4816

European-Finnish (FIN) AF: 0.459 AC: 4854 AN: 10580

Middle Eastern (MID) AF: 0.333 AC: 98 AN: 294

European-Non Finnish (NFE) AF: 0.432 AC: 29333 AN: 67888

Other (OTH) AF: 0.363 AC: 766 AN: 2110

Alfa AF: 0.379 Hom.: 2237

Bravo AF: 0.350

Asia WGS AF: 0.184 AC: 644 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	4.4
DANN	Benign	0.55
PhyloP100		1.0

Splicing

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

Other links and lift over

dbSNP: rs2010338; hg19: chr14-46825881;