rs7597861

Positions:

• chr2-100236725-G-A
• chr2-100236725-G-C

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000452354.5(LINC01104):​n.568-10387G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.648 in 152,092 control chromosomes in the GnomAD database, including 32,367 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 0.65 (32367 hom., cov: 32)
• Consequence: LINC01104 ENST00000452354.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.426

Genes affected

LINC01104 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.661 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
LINC01104	NR_103730.1	n.568-10387G>A		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
LINC01104	ENST00000452354.5	n.568-10387G>A		intron_variant		1

Frequencies

GnomAD3 genomes AF: 0.648 AC: 98488 AN: 151974 Hom.: 32333 Cov.: 32

Gnomad AFR AF: 0.667

Gnomad AMI AF: 0.587

Gnomad AMR AF: 0.511

Gnomad ASJ AF: 0.666

Gnomad EAS AF: 0.649

Gnomad SAS AF: 0.558

Gnomad FIN AF: 0.718

Gnomad MID AF: 0.668

Gnomad NFE AF: 0.664

Gnomad OTH AF: 0.611

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

GnomAD4 genome AF: 0.648 AC: 98576 AN: 152092 Hom.: 32367 Cov.: 32 AF XY: 0.648 AC XY: 48203 AN XY: 74352

Gnomad4 AFR AF: 0.667

Gnomad4 AMR AF: 0.510

Gnomad4 ASJ AF: 0.666

Gnomad4 EAS AF: 0.649

Gnomad4 SAS AF: 0.559

Gnomad4 FIN AF: 0.718

Gnomad4 NFE AF: 0.664

Gnomad4 OTH AF: 0.609

Alfa AF: 0.652 Hom.: 4033

Bravo AF: 0.633

Asia WGS AF: 0.574 AC: 1999 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.52
DANN	Benign	0.22

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7597861; hg19: chr2-100853187;